Article
KIT-related piebaldism in a Chinese girl.
American journal of medical genetics. Part A - 1 Jun 2020
Zhu Lei, Yang Chao, Zhong Wei, Huang Yu-Qi, Zhang Qi, Xu Wen-Cong, Chen Yong-Feng
Abstract excerpt
Piebaldism is a rare, autosomal dominant and congenital pigmentary disorder characterized by stable depigmentation of the skin and white forelock. Mutations in KIT or SNAI2 genes result in piebaldism. Most individuals with piebaldism have a family history of the disorder. Herein, we report a 5-month-old Chinese girl with severe piebaldism but no family history thereof. She has white forelock and large patches of...
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