xeroderma pigmentosum complementation group C

xeroderma pigmentosum complementation group C

A rare autosomal recessive disorder (OMIM:278720) characterised by UV light sensitivity, an increased risk of UV light-induced malignancy and, in some cases, neurologic disease.

Molecular pathology
Defects of XPC, which encodes an early component of the global genome nucleotide excision repair (NER) pathway, cause xeroderma pigmentosum complementation group C.
References in periodicals archive ?
Xeroderma pigmentosum complementation group C single-nucleotide polymorphisms in the nucleotide excision repair pathway correlate with prolonged progression-free survival in advanced ovarian cancer.
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