Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations

BackgroundSnijders Blok-Campeau syndrome (SNIBCPS) is a rare genetic disorder characterized by facial abnormalities, hypotonia, macrocephaly, and global developmental delay (GDD) caused by mutations in CHD3 gene. There is limited information on SNIBCPS and few studies on its pathogenic gene CHD3.Met...

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Autors principals:	Yuanyuan Gao, Pei Wang, Mengying Chen, Kexin Pang, Yifan Sun, Bixia Zheng, Taisong Li, Hongmei Zhang, Min Zhu
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2024-07-01
Col·lecció:	Frontiers in Genetics
Matèries:	Snijders Blok-Campeau syndrome CHD3 gene whole-exome sequencing splicing assay gene mutation
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1347933/full
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