Article
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
Journal of medical genetics - 1 Dec 2012
Zhang Xin, Guo Bi-Rong, Cai Li-Qiong, Jiang Tao, Sun Liang-Dan, Cui Yong, Hu Jing-Chu, Zhu Jun, Chen Gang, Tang Xian-Fa, Sun Guang-Qing, Tang Hua-Yang, Liu Yuan, Li Min, Li Qi-Bin, Cheng Hui, Gao Min, Li Ping, Yang Xu, Zuo Xian-Bo, Zheng Xiao-Dong, Wang Pei-Guang, Wang Jian, Wang Jun, Liu Jian-Jun, Yang Sen, Li Ying-Rui, Zhang Xue-Jun
Abstract excerpt
BACKGROUND: Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterised by coarse, wiry, twisted hair developed in early childhood and subsequent progressive hair loss. MUHH is a genetically heterogeneous disorder. No gene in 1p21.1-1q21.3 region responsible for MUHH has been identified. METHODS: Exome sequencing was performed on two affected subjects, who had normal vertex hair and...
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