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xeroderma pigmentosum, complementation group G (XPG)

Xeroderma pigmentosum (XP) is an autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. Some XP-G patients present features of Cockayne syndrome, including dwarfism, sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. 

OTHER NAME(S): xeroderma pigmentosum VII

ABREVIATION(S):
XPG
XP7

TYPE: microcephaly, neurodegenerative disease, mental retardation (MR), risk of malignant disease, skin problem, sensitivity to radiation, CANCER, skin cancer

Related patway(s): nucleotide excision repair (NER)

DNAtraffic protein(s) related to disease: ERCC5 (XPG)

OMIM: 278780

Last modification date: Aug. 17, 2011