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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Detalles Bibliográficos
Autores principales: Jia, Wei-Xue, Xiao, Xue-Min, Wu, Jian-Bing, Ma, Yi-Ping, Ge, Yi-Ping, Li, Qi, Mao, Qiu-Xia, Li, Cheng-Rang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4410829/
https://www.ncbi.nlm.nih.gov/pubmed/25960657
http://dx.doi.org/10.2147/TCRM.S75544

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4410829/
https://www.ncbi.nlm.nih.gov/pubmed/25960657
http://dx.doi.org/10.2147/TCRM.S75544

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