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Article

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.

Journal of medical case reports - 15 Jun 2017

Doubaj Yassamine, Smaili Wiam, Laarabi Fatima-Zahra, Sefiani Abdelaziz

Abstract excerpt

BACKGROUND: Xeroderma 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. Based on the result of many studies, xeroderma pigmentosum complementation group C is the most common form of xeroderma pigmentosum. A founder...

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Source

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Identifiers

PMID: 28615033
DOI: 10.1186/s13256-017-1311-6
PMCID: PMC5471900

Genes

XPC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.PMID 28615033Read ↗

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