Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review

Abstract Background Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with variable multisystem involvement and genetic heterogeneity. We aimed to analyze the clinical and genetic characteristics of Chinese individuals with CdLS. Methods We collected data regarding the ne...

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Detalhes bibliográficos
Main Authors: Chen Liu, Xiaoying Li, Jing Cui, Rui Dong, Yvqiang Lv, Dong Wang, Haiyan Zhang, Xiaomei Li, Zilong Li, Jian Ma, Yi Liu, Zhongtao Gai
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2020-10-01
Colecção:Molecular Genetics & Genomic Medicine
Assuntos:
Chinese CdLS individuals
Cornelia de Lange syndrome
genotype‐phenotype relationship
variant
Acesso em linha:https://doi.org/10.1002/mgg3.1471
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