Article
Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene.
PloS one - 1 Jan 2012
Wei Jianhua, Xue Yang, Wu Lian, Ma Jie, Yi Xiuli, Zhang Junrui, Lu Bin, Li Chunying, Shi Dashuang, Shi Songtao, Feng Xinghua, Cai Tao
Abstract excerpt
EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) is an autosomal dominant developmental disorder resulting mainly from pathogenic mutations of the DNA-binding domain (DBD) of the TP63 gene. In this study, we showed that K193E mutation in nine affected individuals of a four-generation kindred with a large degree of phenotypic variability causes four different syndromes or TP63-related disorders:...
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