PUBMED ID | 32164589 |
DOI | 10.1186/s12887-020-2019-0 |
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 |
1 combination linked to 838 | OLI640 |