eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | aplasia cutis congenita |
| Comorbidity | C0376524|branchio-oculo-facial syndrome |
| Sentences | 1 |
| PubMedID- 24736394 | Mutations in ap-2α cause cutis aplasia in patients with branchio-oculo-facial syndrome (bofs) [37], whereas kctd1 mutations are identified in scalp-ear-nipple (sen) syndrome, suggesting a potential overlap in the pathogenesis of bofs and sen syndrome during ectodermal development due to their interaction between ap-2α and kctd1 [38]. |
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