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De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome

Cornelia de Lange Syndrome (CdLS) is a rare congenital genetic disease causing abnormal unique facial phenotypes, several defects in organs and body parts, and mental disorder or intellectual disorder traits. Main causes of CdLS have been reported as variants in cohesin complex genes, in which mutat...

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Detalhes bibliográficos
Publicado no:Medicina (Kaunas)
Main Authors: Thanh, Duong Chi, Ngoc, Can Thi Bich, Nguyen, Ngoc-Lan, Vu, Chi Dung, Tung, Nguyen Van, Nguyen, Huy Hoang
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7073647/
https://ncbi.nlm.nih.gov/pubmed/32074972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/medicina56020076
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