Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome
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DOI: 10.3389/fgene.2023.1082100
Abstract: Background: Because CHARGE syndrome is characterized by high clinical variability, molecular confirmation of the clinical diagnosis is of pivotal importance. Most patients have a pathogenic variant in the CHD7 gene; however, variants are distributed throughout… read more here.
Keywords: chd7 intronic; charge syndrome; intronic variant; variant ... See more keywords