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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Detalles Bibliográficos
Autores principales: Thanh, Duong Chi, Ngoc, Can Thi Bich, Nguyen, Ngoc-Lan, Vu, Chi Dung, Tung, Nguyen Van, Nguyen, Huy Hoang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073647/
https://www.ncbi.nlm.nih.gov/pubmed/32074972
http://dx.doi.org/10.3390/medicina56020076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073647/
https://www.ncbi.nlm.nih.gov/pubmed/32074972
http://dx.doi.org/10.3390/medicina56020076

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