Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12020295
Abstract: Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have markedly increased… read more here.
Keywords: ancestral origins; mutational spectrum; clinical mutational; xeroderma pigmentosum ... See more keywords