Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations
Yuanyuan Gao,
Pei Wang,
Mengying Chen
et al.
Abstract: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.MethodsWe utilized whole-exome sequencing, in vitro minigene splicing assay analysis, and construction of protein models to validate the suspected pathogenic mutation. In addition, the PubMed database was searched usin… Show more
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