xeroderma pigmentosum complementation group G

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xeroderma pigmentosum complementation group G

An autosomal recessive pigmentary skin disorder (OMIM:610651) characterised by photosensivity, high risk of cancer on sun-exposed skin and, in some cases, neurologic defects. Some XPB patients have features of Cockayne syndrome, i.e., dwarfism, sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia and decreased nerve conduction velocities.

Molecular pathology
Defects of ERCC5, which encodes a protein involved in nucleotide excision repair (NER) of DNA and in RNA transcription, cause xeroderma pigmentosum complementation group G.
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