Analysis of Large Phenotypic Variability of EEC and SHFM4 Syndromes Caused by K193E Mutation of the TP63 Gene

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...

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Autores principales: Wei, Jianhua, Xue, Yang, Wu, Lian, Ma, Jie, Yi, Xiuli, Zhang, Junrui, Lu, Bin, Li, Chunying, Shi, Dashuang, Shi, Songtao, Feng, Xinghua, Cai, Tao
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2012
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3344828/
https://ncbi.nlm.nih.gov/pubmed/22574117
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0035337
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