Topic
Abnormal iris pigmentation
About: Abnormal iris pigmentation is a research topic. Over the lifetime, 1 publications have been published within this topic receiving 6 citations.
Papers
TL;DR: A novel PAX3 mutation is identified in a Japanese WS1 patient showing abnormal right iris pigmentation, right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism.
Abstract: Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c.1107 C>G, p.Ser369Arg) in a Japanese WS1 patient showing abnormal right iris pigmentation, right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism.
10 citations
Related Topics (5)
Performance Metrics
| Year | Papers |
|---|---|
| 2016 | 1 |