Article
A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism.
Mutation research - 1 Jan 2008
Luo Tongxiu, Yu Weishi, Yuan Zengjin, Deng Yun, Zhao Yulian, Yuan Wuzhou, Xiao Jing, Wang Yuequn, Luo Na, Mo Xiaoyang, Li Yongqing, Liu Mingyao, Wu Xiushan
Abstract excerpt
p63 is a transcription factor homologous to p53 and p73; mutations in this gene have been identified in individuals with several types of developmental abnormalities, including EEC (ectrodactyly, ectodermal dysplasia, facial clefts) syndrome and split-hand/split-foot malformation (SHFM). Several mutations in the p63 gene have previously been shown to be related to SHFM. In this study, we report on a Chinese...
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