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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Bibliographic Details
Published in:Medicina (Kaunas)
Main Authors: Thanh, Duong Chi, Ngoc, Can Thi Bich, Nguyen, Ngoc-Lan, Vu, Chi Dung, Tung, Nguyen Van, Nguyen, Huy Hoang
Format: Artigo
Language:Inglês
Published: MDPI 2020
Subjects:
Case Report
Online Access: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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