Article
The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.
Anatomical record (Hoboken, N.J. : 2007) - 1 Apr 2012
Liu Wen-Ting, Ke Hai-Ping, Zhao Yan, Chen Xiao-Ling, Lu Jia-Jun, Du Zheng-Fang, Yu Dan, Zhang Xian-Ning
Abstract excerpt
Epidermolytic palmoplantar keratoderma (EPPK) is generally associated with dominant-negative mutations of the Keratin 9 gene (KRT9), and rarely with the Keratin 1 gene (KRT1). To date, a myriad of mutations has been reported with a high frequency of codon 163 mutations within the first exon of KRT9 in different populations. Notably, a distinct phenotypic heterogeneity, digital mutilation, was found recently in a...
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