xeroderma pigmentosum complementation group D
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xeroderma pigmentosum complementation group DAn autosomal recessive pigmentary skin disorder (OMIM:278730) characterised by photosensivity, high risk of cancer on sun-exposed skin and, in some cases, neurologic defects. Some XP-D patients have features of Cockayne syndrome, i.e., dwarfism, sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia and decreased nerve conduction velocities.
Caused by defects of ERCC2, which encodes a protein involved in nucleotide excision repair (NER) of DNA, by opening DNA around the site of DNA damage, and in RNA transcription.
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