CHARGE syndrome: Genetic aspects and dental challenges, a review and case presentation
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Date
2020Author
Chetty, Manogari
Roberts, Tina Sharon
Elmubarak, Mona
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CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable
phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific
clinical criteria. The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the
CHD7 gene (OMIM 608892) at chromosome locus 8q12.