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

Abstract excerpt

Background Snijders 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. Methods We utilized whole-exome sequencing, in vitro minigene splicing assay analysis, and construction of protein...

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