Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients

Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients

Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. Mutation in the NIPBL gene accounts for nearly 60% of the cases. This study reports the clinical and genetic findings of three cases of CdLS from unrelated Chinese families. Clinically, all the thre...

Full description

Bibliographic Details
Main Authors: Ying Peng, Changbiao Liang, Hui Xi, Shuting Yang, Jiancheng Hu, Jialun Pang, Jing Liu, Yingchun Luo, Chengyuan Tang, Wanqin Xie, Hua Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
Cornelia de Lange syndrome
NIPBL
whole-exome sequencing
SNP array
prenatal diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.699894/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.699894/full

Similar Items