Article
Mice transgenic for Kit(V620A): recapitulation of piebaldism but not progressive depigmentation seen in humans with this mutation.
The Journal of investigative dermatology - 1 May 2006
Tosaki Hiroko, Kunisada Takahiro, Motohashi Tsutomu, Aoki Hitomi, Yoshida Hisahiro, Kitajima Yasuo
Abstract excerpt
Piebaldism is an autosomal dominant genetic pigmentary disorder, characterized by congenital white hair and patches located on the forehead, anterior trunk, and extremities. Most piebald patients have a mutation of the KIT gene, which encodes a tyrosine kinase receptor involved in pigment cell development. The white hair and patches of such patients are already completely formed at birth and do not usually expand...
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