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

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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Bibliographic Details
Main Authors: He Biwei, Su Min, Wang Yanlin, Zhao Xinrong, Gao Li, Hua Renyi, Sun Jinling, Wang Shan, Wu Yi, Cheng Weiwei
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Genetics
Subjects:
EEC
p63
prenatal phenotypic spectrum
genitourinary anomalies
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1002089/full

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