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Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome

BACKGROUND: Ellis‐van Creveld syndrome (EVC), a very rare genetic skeletal dysplasia, is clinically characterized by a tetrad consisting of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. The aim of this study was to identify the genetic defect for EVC in a five‐generatio...

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Detalles Bibliográficos
Autores principales:	Huang, Xiangjun, Guo, Yi, Xu, Hongbo, Yang, Zhijian, Deng, Xiong, Deng, Hao, Yuan, Lamei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732296/ https://www.ncbi.nlm.nih.gov/pubmed/31338997 http://dx.doi.org/10.1002/mgg3.885

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