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Article

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

Medicina (Kaunas, Lithuania) - 14 Feb 2020

Thanh Duong Chi, Ngoc Can Thi Bich, Nguyen Ngoc-Lan, Vu Chi Dung, Tung Nguyen Van, Nguyen Huy Hoang

Abstract excerpt

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 mutations in the NIPBL gene have been estimated to account for up to 80%. Our study included three Vietnamese patients...

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Identifiers

PMID: 32074972
DOI: 10.3390/medicina56020076
PMCID: PMC7073647

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