A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn Hair Color in a Chinese Family

Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused by KIT gene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneous MC1R (a...

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Detalles Bibliográficos
Autores principales: Yang, Yong-jia, Zhao, Rui, He, Xin-yu, Li, Li-ping, Wang, Ke-wei, Zhao, Liu, Tu, Ming, Tang, Jin-song, Xie, Zhi-guo, Zhu, Yi-min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755434/
https://www.ncbi.nlm.nih.gov/pubmed/24000325
http://dx.doi.org/10.1155/2013/689756

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755434/
https://www.ncbi.nlm.nih.gov/pubmed/24000325
http://dx.doi.org/10.1155/2013/689756

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