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Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder, which causes a range of physical, cognitive, and medical challenges. To retrospectively analyze the clinical characteristics and genetic variations of Chinese patients, and to provide experience for further diagnosis and treatment of CdLS...

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Detalles Bibliográficos
Autores principales:	Li, Qun, Chang, Guoying, Yin, Lei, Li, Juan, Huang, Xiaodong, Shen, Yongnian, Li, Guoqiang, Xu, Yufei, Wang, Jian, Wang, Xiumin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7718889/ https://www.ncbi.nlm.nih.gov/pubmed/33277604 http://dx.doi.org/10.1038/s41598-020-78205-5

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