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...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Ther Clin Risk Manag
Main Authors: 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
Jezik:Inglês
Izdano: Dove Medical Press 2015
Teme:
Case Report
Online dostop: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
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