Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome

Background: CHARGE syndrome (CS) is a single-gene genetic disorder with multiple organ malformations caused by a variant of the chromodomain helicase DNA-binding protein 7 (CHD7) gene on chromosome 8q12.1. In this study, we aimed to investigate new variants that have emerged in these cases compared...

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Detalles Bibliográficos
Autores principales: Wu, Xiangtao, Chen, Liang, Lu, Weihong, He, Shaoru, Li, Xiaowen, Sun, Lingling, Zhang, Longjiang, Wang, Dejuan, Zhang, Ruigui, Liu, Yumei, Sun, Yunxia, Feng, Zhichun, Wei Zhang, Victor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9355507/
https://www.ncbi.nlm.nih.gov/pubmed/35938004
http://dx.doi.org/10.3389/fgene.2022.852429

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9355507/
https://www.ncbi.nlm.nih.gov/pubmed/35938004
http://dx.doi.org/10.3389/fgene.2022.852429

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