# data[].attributes.title
Pathophysiological insights into ALS with C9ORF72 expansions

# data[].attributes.title
Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy

# data[].attributes.title
An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13

# data[].attributes.title
Next-generation sequencing of patients with congenital anosmia

# data[].attributes.title
Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus

# data[].attributes.title
Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease

# data[].attributes.title
An ancient founder mutation in PROKR2 impairs human reproduction

# data[].attributes.title
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

# data[].attributes.title
Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome

# data[].attributes.title
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

# data[].attributes.title
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

# data[].attributes.title
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy

# data[].attributes.title
A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations

# data[].attributes.title
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD

# data[].attributes.title
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension

# data[].attributes.title
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?

# data[].attributes.title
Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes

# data[].attributes.title
First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia

# data[].attributes.title
The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations

# data[].attributes.title
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

# data[].attributes.title
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

# data[].attributes.title
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes

# data[].attributes.title
Further support for digenic inheritance in Bardet-Biedl syndrome

# data[].attributes.title
Digenic Junctional Epidermolysis Bullosa: Mutations in COL17A1 and LAMB3 Genes

# data[].attributes.title
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype

# data[].attributes.title
Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa

# data[].attributes.title
Digenic mutations on SCAP and AGXT2 predispose to premature myocardial infarction

# data[].attributes.title
Novel Missense Mutation in the NOD2 Gene in a Patient with Early Onset Ulcerative Colitis: Causal or Chance Association?

# data[].attributes.title
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism

# data[].attributes.title
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

# data[].attributes.title
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria

# data[].attributes.title
Somatic overgrowth associated with homozygous mutations in bothMAN1B1andSEC23A

# data[].attributes.title
Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population

# data[].attributes.title
A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6

# data[].attributes.title
A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations

# data[].attributes.title
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma

# data[].attributes.title
A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations

# data[].attributes.title
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing

# data[].attributes.title
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

# data[].attributes.title
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

# data[].attributes.title
Mutations in the GGCX and ABCC6 Genes in a Family with Pseudoxanthoma Elasticum-Like Phenotypes

# data[].attributes.title
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy

# data[].attributes.title
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

# data[].attributes.title
Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

# data[].attributes.title
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

# data[].attributes.title
Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome

# data[].attributes.title
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism

# data[].attributes.title
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

# data[].attributes.title
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

# data[].attributes.title
GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature

# data[].attributes.title
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

# data[].attributes.title
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations

# data[].attributes.title
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

# data[].attributes.title
Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole‐exome sequencing

# data[].attributes.title
Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression

# data[].attributes.title
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

# data[].attributes.title
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer

# data[].attributes.title
Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes

# data[].attributes.title
Expanding the Phenotype and Genotype of Female GnRH Deficiency

# data[].attributes.title
Mutational burden and potential oligogenic model of TBX6‐mediated genes in congenital scoliosis

# data[].attributes.title
Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report

# data[].attributes.title
TRAP1 chaperone protein mutations and autoinflammation

# data[].attributes.title
Genetic and clinical findings of panel‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa

# data[].attributes.title
NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

# data[].attributes.title
Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency

# data[].attributes.title
Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene

# data[].attributes.title
COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

# data[].attributes.title
Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Müllerian anomalies

# data[].attributes.title
Digenic variants of planar cell polarity genes in human neural tube defect patients

# data[].attributes.title
Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families

# data[].attributes.title
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

# data[].attributes.title
Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4)

# data[].attributes.title
Mutations in CDK5/RAP2 cause Seckel syndrome

# data[].attributes.title
Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

# data[].attributes.title
Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia

# data[].attributes.title
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

# data[].attributes.title
Novel mutations of COL4A3, COL4A4 and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

# data[].attributes.title
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

# data[].attributes.title
Allelic Complexity in Long QT Syndrome: A Family-Case Study

# data[].attributes.title
Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex

# data[].attributes.title
NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence

# data[].attributes.title
Dual porphyria with mutations in both the UROD and HMBS genes

# data[].attributes.title
Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy

# data[].attributes.title
Genetic Analysis in Patients With Kallmann Syndrome: Coexistence of Mutations in Prokineticin Receptor 2 and KAL1

# data[].attributes.title
Genetic analyses of Chinese patients with digenic oculocutaneous albinism

# data[].attributes.title
Mutation Analysis in Congenital Long QT Syndrome—A Case with Missense Mutations in KCNQ1 and SCN5A

# data[].attributes.title
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss

# data[].attributes.title
Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes

# data[].attributes.title
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

# data[].attributes.title
Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14

# data[].attributes.title
Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex

# data[].attributes.title
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis

# data[].attributes.title
The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort

# data[].attributes.title
Prevalence of Mutations in Renal Developmental Genes in Children with Renal Hypodysplasia: Results of the ESCAPE Study

# data[].attributes.title
Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations

# data[].attributes.title
Familial Parkinsonism with digenic parkin and PINK1 mutations

# data[].attributes.title
Apparent Digenic Inheritance of Waardenburg Syndrome Type 2 (WS2) and Autosomal Recessive Ocular Albinism (AROA)

# data[].attributes.title
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome

# data[].attributes.title
Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient

# data[].attributes.title
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

# data[].attributes.title
Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle

# data[].attributes.title
The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family

# data[].attributes.title
Familial Acute Necrotizing Encephalopathy: Evidence From Next Generation Sequencing of Digenic Inheritance

# data[].attributes.title
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

# data[].attributes.title
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

# data[].attributes.title
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome

# data[].attributes.title
Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes

# data[].attributes.title
The characteristics of digenic familial exudative vitreoretinopathy

# data[].attributes.title
Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies

# data[].attributes.title
Congenital long QT syndrome: Severe Torsades de pointes provoked by epinephrine in a digenic mutation carrier

# data[].attributes.title
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance

# data[].attributes.title
Female X-linked Alport syndrome with somatic mosaicism

# data[].attributes.title
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect

# data[].attributes.title
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome

# data[].attributes.title
Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, Aα R16C and γ G165R

# data[].attributes.title
Alport syndrome: impact of digenic inheritance in patients management

# data[].attributes.title
Myocilin gene implicated in primary congenital glaucoma

# data[].attributes.title
A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations

# data[].attributes.title
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

# data[].attributes.title
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

# data[].attributes.title
Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

# data[].attributes.title
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes

# data[].attributes.title
Digenic inheritance of mutations in FOXC1 and PITX2: Correlating transcription factor function and axenfeld-rieger disease severity

# data[].attributes.title
Congenital fibrinogen disorder caused by digenic mutations of the FGA and FGB genes

# data[].attributes.title
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT

# data[].attributes.title
Digenic inheritance of mutations in the cardiac troponin ( TNNT2 ) and cardiac beta myosin heavy chain ( MYH7 ) as the cause of severe dilated cardiomyopathy

# data[].attributes.title
The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1

# data[].attributes.title
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

# data[].attributes.title
Mutant Caveolin-3 Induces Persistent Late Sodium Current and Is Associated With Long-QT Syndrome

# data[].attributes.title
Modification of Human Hearing Loss by Plasma-Membrane Calcium Pump PMCA2

# data[].attributes.title
Whole exome sequencing reveals novel candidate gene variants for MODY

# data[].attributes.title
Dissection of epistasis in oligogenic Bardet–Biedl syndrome

# data[].attributes.title
Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/RDS and ROM1 Loci

# data[].attributes.title
Phenotypes and genotypes in epilepsy with febrile seizures plus

# data[].attributes.title
Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population

# data[].attributes.title
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

# data[].attributes.title
Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing

# data[].attributes.title
Digenic Inheritance in Epidermolysis Bullosa Simplex

# data[].attributes.title
A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

# data[].attributes.title
Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease

# data[].attributes.title
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

# data[].attributes.title
A Comprehensive Genetic Study of Autosomal Recessive Ocular Albinism in Caucasian Patients

# data[].attributes.title
Triallelic digenic mutation in theprokineticin 2andGNRHreceptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism

# data[].attributes.title
Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes

# data[].attributes.title
The ominous trio of PCSK1, CHD7 and PAX4: Normosmic hypogonadotropic hypogonadism with maturity‐onset diabetes in a young man

# data[].attributes.title
Evidence of digenic inheritance in autoinflammation-associated genes

# data[].attributes.title
Evidence of digenic inheritance in Alport syndrome

# data[].attributes.title
Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy

# data[].attributes.title
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

# data[].attributes.title
Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12

# data[].attributes.title
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP

# data[].attributes.title
Early onset severe pulmonary arterial hypertension with ‘two-hit’ digenic mutations in both BMPR2 and KCNA5 genes

# data[].attributes.title
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

# data[].attributes.title
Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing

# data[].attributes.title
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

# data[].attributes.title
Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy

# data[].attributes.title
Synergistic Heterozygosity: Disease Resulting from Multiple Partial Defects in One or More Metabolic Pathways

# data[].attributes.title
Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing

# data[].attributes.title
CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis

# data[].attributes.title
Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I

# data[].attributes.title
Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations

# data[].attributes.title
Familial transposition of the great arteries caused by multiple mutations in laterality genes

# data[].attributes.title
Evaluation of the Thyroid Transcription Factor-1 Gene (TITF1) as a Hirschsprung's Disease Locus

# data[].attributes.title
Evidence of Oligogenic Inheritance in Nephronophthisis

# data[].attributes.title
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

# data[].attributes.title
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

# data[].attributes.title
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

# data[].attributes.title
First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes

# data[].attributes.title
Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome

# data[].attributes.title
Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism

# data[].attributes.title
Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG

# data[].attributes.title
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

# data[].attributes.title
Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome

# data[].attributes.title
Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis

# data[].attributes.title
Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability

# data[].attributes.title
FBN1contributing to familial congenital diaphragmatic hernia

# data[].attributes.title
Evidence for an oligogenic basis of amyotrophic lateral sclerosis

# data[].attributes.title
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

# data[].attributes.title
Oligogenic inheritance of optineurin (OPTN) andC9ORF72mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS

# data[].attributes.title
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

# data[].attributes.title
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

# data[].attributes.title
Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete

# data[].attributes.title
Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis

# data[].attributes.title
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients

# data[].attributes.title
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

# data[].attributes.title
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with aPTPN11mutation and a novel variant inSOS1

# data[].attributes.title
OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia

# data[].attributes.title
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

# data[].attributes.title
A frequent oligogenic involvement in congenital hypothyroidism

# data[].attributes.title
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

# data[].attributes.title
The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance

# data[].attributes.title
Oligogenic inheritance of a human heart disease involving a genetic modifier

# data[].attributes.title
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform

# data[].attributes.title
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

# data[].attributes.title
A Glanzmann thrombasthenia family associated with a TUBB1‐related macrothrombocytopenia

# data[].attributes.title
SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

# data[].attributes.title
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly

# data[].attributes.title
Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young

# data[].attributes.title
Exome sequencing analysis identifies frequent oligogenic involvement andFLNBvariants in adolescent idiopathic scoliosis

# data[].attributes.title
Multiple rare inherited variants in a four generation schizophrenia family offer leads for complex mode of disease inheritance

# data[].attributes.title
Rare variant based evidence for oligogenic contribution of neurodevelopmental pathway genes to schizophrenia

# data[].attributes.title
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

# data[].attributes.title
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

# data[].attributes.title
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients

# data[].attributes.title
Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism

# data[].attributes.title
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients

# data[].attributes.title
Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes

# data[].attributes.title
Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1

# data[].attributes.title
GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

# data[].attributes.title
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS

# data[].attributes.title
A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy

# data[].attributes.title
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome

# data[].attributes.title
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia

# data[].attributes.title
Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance

# data[].attributes.title
Coinheritance of generalized pustular psoriasis and familial Behçet‐like autoinflammatory syndrome with variants in IL36RN and TNFAIP3 in the heterozygous state

# data[].attributes.title
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

# data[].attributes.title
A mutation in the CACNA1C gene leads to early repolarization syndrome with incomplete penetrance: A Chinese family study

# data[].attributes.title
A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young French Patients

# data[].attributes.title
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis

# data[].attributes.title
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

# data[].attributes.title
Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma

# data[].attributes.title
Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism

# data[].attributes.title
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

# data[].attributes.title
Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians

# data[].attributes.title
Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations

# data[].attributes.title
Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients

# data[].attributes.title
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

# data[].attributes.title
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

# data[].attributes.title
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance

# data[].attributes.title
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

# data[].attributes.title
Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases

# data[].attributes.title
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development

# data[].attributes.title
Loss of function BMP4 mutation supports the implication of the BMP/TGF‐β pathway in the etiology of combined pituitary hormone deficiency

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Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis

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Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia

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Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients

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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

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Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease

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Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis

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Whole‐exome sequencing for variant discovery in blepharospasm

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Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort

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Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE)

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VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

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Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?

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Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

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Acrocallosal syndrome: Identification of a novel KIF7 mutation and evidence for oligogenic inheritance

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Clinical and genetic features of 64 young male paediatric patients with congenital hypogonadotropic hypogonadism

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Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

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Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism

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Four novel optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in Mainland China

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Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

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Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism

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Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients

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Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism

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Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

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Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

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Digenic inheritance of IL-36RA and SEC61A1 mutations underlies generalized pustular psoriasis with hypogammaglobulinemia

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Identification of new candidate genes for spina bifida through exome sequencing

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Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes

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Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances

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Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family

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Involvement of Rare Mutations of SCN9A, DPP4, ABCA13, and SYT14 in Schizophrenia and Bipolar Disorder

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Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis

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Increase in diagnostic yield achieved for 174 whole-exome sequencing cases reanalyzed 1–2 years after initial analysis

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Mutation spectrum of amyotrophic lateral sclerosis in Central South China

# data[].attributes.title
Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic

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NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A Variants in a Child with Mild Hyperglycemia: A Case Report

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Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients

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Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study

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Combining whole exome sequencing with in silico analysis and clinical data to identify candidate variants in pediatric left ventricular noncompaction

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Spectrum mutations ofPRF1,UNC13D,STX11,and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis

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A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes

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LAMA2 and LOXL4 are candidate FSGS genes

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Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes

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Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia

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Digenic heterozygous mutations of KCNH2 and SCN5A induced young and early‐onset long QT syndrome and sinoatrial node dysfunction

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Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis−10 New Cases of Congenital Hypothyroidism and a Literature Review

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Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants

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Recessive Inheritance of Population-Specific Intronic LINE-1 Insertion Causes a Rotor Syndrome Phenotype

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Novel variants and cellular studies on patients’ primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis

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Mutation Screening of the GLE1 Gene in a Large Chinese Cohort of Amyotrophic Lateral Sclerosis Patients

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Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism

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Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

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Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland

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Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis

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A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes

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Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability

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Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl

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PPFIA4 mutation: A second hit in POLG related disease?

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PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family

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Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease

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Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset

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Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

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The mutation screening in candidate genes related to thyroid dysgenesis by targeted next‐generation sequencing panel in the Chinese congenital hypothyroidism

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Genetic Causes of Oculocutaneous Albinism in Pakistani Population

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Identification and Computational Analysis of Rare Variants of Known Hearing Loss Genes Present in Five Deaf Members of a Pakistani Kindred

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Genetic Profiles and Three-year Follow-up Study of Chinese Males With Congenital Hypogonadotropic Hypogonadism

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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

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Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition

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Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome

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Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives

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Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report

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Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7

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Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

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Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?

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Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome

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Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort

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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48

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Case Report of Left Ventricular Noncompaction Cardiomyopathy Characterized by Undulating Phenotypes in Adult Patients

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Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism

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A Resuscitated Case of Acute Myocardial Infarction with both Familial Hypercholesterolemia Phenotype Caused by Possibly Oligogenic Variants of the PCSK9 and ABCG5 Genes and Type I CD36 Deficiency

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Compound Mutations : A Common Cause of Severe Long-QT Syndrome

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BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance

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Exome Sequencing Identifies the Extremely Rare ITGAV and FN1 Variants in Early Onset Inflammatory Bowel Disease Patients

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A new enrichment approach for candidate gene detection in unexplained recurrent pregnancy loss and implantation failure

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Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn’s Disease-like Presentation: Genotype-Phenotype Correlation Study

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Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man

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Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing

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A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes

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Mutation Analysis of Thin Basement Membrane Nephropathy

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Potential di‐genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex

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A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes

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Genetic and phenotypic differences between sexes in congenital hypogonadotropic hypogonadism (CHH): Large cohort analysis from a single tertiary centre

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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

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FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability

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Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance

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Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity

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Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing

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Report of rare and novel mutations in candidate genes in a cohort of hearing‐impaired patients

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Genetic spectrum of Kallmann syndrome: Single‐center experience and systematic review

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Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency

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De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies

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Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing

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Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism

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Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

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Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient

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Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study

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Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance

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Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report

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Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome

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Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study

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Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

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A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia

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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

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Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis

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The oligogenic model of amyotrophic lateral sclerosis; phenotypes of three Tunisian families

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Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder

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Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer’s disease in a multigenerational Colombian Family

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CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome

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The utility of hierarchical genetic testing in paediatric liver disease

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Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

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Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

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Quadruple genetic variants in a sporadic ALS patient

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Expanding the phenotype of DNAJC30‐associated Leigh syndrome

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Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

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Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

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Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family

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Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients

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DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

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Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis

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Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta

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A genetic and developmental biological approach for a family with complex congenital heart diseases—evidence of digenic inheritance

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Clinical, histological and molecular characteristics of Alport syndrome in Chinese children

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Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss

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Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series

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Mutation profile of <scp>Bardet‐Biedl</scp> syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern

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Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus

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Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family

# data[].attributes.title
Whole Genome Sequencing Revealed Inherited Rare Oligogenic Variants Contributing to Schizophrenia and Major Depressive Disorder in Two Families

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Presence of Rare Variants is Associated with Poorer Survival in Chinese Patients with Amyotrophic Lateral Sclerosis

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Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report

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Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing

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Genetic characteristics of common variable immunodeficiency patients with autoimmunity

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An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?

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Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants

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Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients

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Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients

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Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

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An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation

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Probable digenic inheritance of <scp>Diamond–Blackfan</scp> anemia

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Clinical exome sequencing elucidates underlying cause of death in sudden unexpected death of infants: two case reports

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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

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Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD

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Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

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Implications of combined NOD2 and other gene mutations in autoinflammatory diseases

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Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting

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HAX1‐related congenital neutropenia: Long‐term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (<scp>SCNIR</scp>)

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Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM

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Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance

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Digenic Inheritance in Juvenile Open-Angle Glaucoma

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Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy

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Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants

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Genome-Wide Association and Inheritance-Based Analyses Implicate Unconventional Myosin Genes in Hypoplastic Left Heart Syndrome

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Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China

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