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...

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Detalles Bibliográficos
Autores principales: Peng, Ying, Liang, Changbiao, Xi, Hui, Yang, Shuting, Hu, Jiancheng, Pang, Jialun, Liu, Jing, Luo, Yingchun, Tang, Chengyuan, Xie, Wanqin, Wang, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362598/
https://www.ncbi.nlm.nih.gov/pubmed/34394191
http://dx.doi.org/10.3389/fgene.2021.699894

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362598/
https://www.ncbi.nlm.nih.gov/pubmed/34394191
http://dx.doi.org/10.3389/fgene.2021.699894

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