Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.
Sign Up to like & getrecommendations! Published in 2021 at "Klinische Padiatrie"
DOI: 10.1055/a-1552-3788
Abstract: BACKGROUND Xeroderma pigmentosum (XP) is a rare recessively inherited disorder that presents clinical and genetic heterogeneity. Mutations in eight genes, of which seven are involved in nucleotide excision repair (NER) pathway have been reported to… read more here.
Keywords: large consanguineous; three large; xpc gene; xeroderma pigmentosum ... See more keywords
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