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Xeroderma Pigmentosum: Genetic Overview by www.anirudheshore is a document available to read on EtoBox.

Xeroderma Pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by extreme sensitivity to UV rays, leading to skin cancers and neurological issues due to mutations in nucleotide excision repair genes. A case of a 3-year-old boy with blistering episodes after sun exposure ultimately revealed XP through genetic testing. The condition results in the accumulation of DNA mutations from UV damage, causing various clinical manifestations including skin changes and potential cognitive declin

Author

www.anirudheshore

Language

EN