| PUBMED ID | 30016581 |
| DOI | 10.1002/humu.23592 |
| 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 |
| 1 combination linked to 729 | OLI443 |