Chargement en cours...

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-o...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Ther Clin Risk Manag
Auteurs principaux: Jia, Wei-Xue, Xiao, Xue-Min, Wu, Jian-Bing, Ma, Yi-Ping, Ge, Yi-Ping, Li, Qi, Mao, Qiu-Xia, Li, Cheng-Rang
Format: Artigo
Langue:Inglês
Publié: Dove Medical Press 2015
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4410829/
https://ncbi.nlm.nih.gov/pubmed/25960657
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TCRM.S75544
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!