Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic study of 20 CdLS cases from China. METHODS: This is an observational study. Suspected patients were referred for fu...

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Detalles Bibliográficos
Autores principales: Hei, Mingyan, Gao, Xiangyu, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815176/
https://www.ncbi.nlm.nih.gov/pubmed/29452578
http://dx.doi.org/10.1186/s12887-018-1004-3

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