What is xeroderma pigmentosum?
Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by extreme sensitivity to ultraviolet (UV) radiation due to defects in DNA repair mechanisms. Individuals with XP have mutations in genes responsible for nucleotide excision repair (NER), a crucial pathway for repairing UV-induced DNA damage, particularly pyrimidine dimers and other photoproducts.
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