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Article

CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation

8 May 2020

Abstract excerpt

BACKGROUND: 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. CASE PRESENTATION: A South...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32384900
DOI: 10.1186/s13005-020-00224-4

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