A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report
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DOI: 10.1186/s13256-017-1311-6
Abstract: BackgroundXeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been associated to this disorder.… read more here.
Keywords: xpc gene; case; xeroderma pigmentosum; mutation xpc ... See more keywords