Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome
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DOI: 10.3389/fgene.2022.852429
Abstract: 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… read more here.
Keywords: charge syndrome; novel variants; variants chd7; chd7 gene ... See more keywords