Article
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.
Journal of medical genetics - 1 Sept 2012
Guo Bi-Rong, Zhang Xin, Chen Gang, Zhang Jian-Guo, Sun Liang-Dan, Du Wei-Dong, Zhang Qing, Cui Yong, Zhu Jun, Tang Xian-Fa, Xiao Ruo, Liu Yuan, Li Min, Tang Hua-Yang, Yang Xu, Cheng Hui, Li Ming, Gao Min, Li Ping, Wang Jian-Bo, Xu Feng-Ping, Zuo Xian-Bo, Zheng Xiao-Dong, Zhang Xiao-Guang, Yang Lin, Liu Jian-Jun, Wang Jun, Yang Sen, Zhang Xue-Jun
Abstract excerpt
BACKGROUND: Punctate palmoplantar keratoderma (PPPK) is a rare autosomal dominant skin disorder characterised by numerous hyperkeratotic papules irregularly distributed on the palms and soles. To date, no causal gene for this disease has been identified. METHODS: We performed exome sequencing analysis of four affected individuals and two unaffected controls from one Chinese PPPK family where disease locus was...
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