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

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    s13005-020-00224-4.pdf (5.848Mb)
    Date
    2020
    Author
    Chetty, Manogari
    Roberts, Tina Sharon
    Elmubarak, Mona
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    Abstract
    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.
    URI
    http://hdl.handle.net/10566/5409
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    • Research Articles (Dentistry) [270]

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