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

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 neonatal...

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Detalles Bibliográficos
Autores principales: Liu, Chen, Li, Xiaoying, Cui, Jing, Dong, Rui, Lv, Yvqiang, Wang, Dong, Zhang, Haiyan, Li, Xiaomei, Li, Zilong, Ma, Jian, Liu, Yi, Gai, Zhongtao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549606/
https://www.ncbi.nlm.nih.gov/pubmed/32856424
http://dx.doi.org/10.1002/mgg3.1471

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549606/
https://www.ncbi.nlm.nih.gov/pubmed/32856424
http://dx.doi.org/10.1002/mgg3.1471

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