Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney

Ectrodactyly–ectodermal dysplasia–cleft (EEC) syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefting. Reduced penetrance is manifested in these core features and additional under-recognized features, especially in prenatal cases. Here,...

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Detalles Bibliográficos
Autores principales: Biwei, He, Min, Su, Yanlin, Wang, Xinrong, Zhao, Li, Gao, Renyi, Hua, Jinling, Sun, Shan, Wang, Yi, Wu, Weiwei, Cheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9662688/
https://www.ncbi.nlm.nih.gov/pubmed/36386837
http://dx.doi.org/10.3389/fgene.2022.1002089

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