SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature.

Abstract excerpt

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by asymptomatic hyper- and hypopigmented macules appearing in infancy and persisting for life. Although mutations in ABCB6 account for many DUH cases, recently, the SAM and SH3 domain-containing 1 (SASH1) gene has emerged as a key player in DUH. Additionally, SASH1 mutations have been associated with the pure-lentiginous phenotype...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to MITF gene
• Share to POMC gene
• Share to Mutation