Clinical and molecular characterization of Xeroderma pigmentosum in Moroccan population: a case series of 40 patients

Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity with increased risk of skin tumors. XP is caused by mutations in DNA repair genes that protect cells from UV-indu...

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主要な著者:	Meriame Abbassi, Hanane Sayel, Nadia Senhaji, Said Trhanint, Hanane Bay Bay, Laila Bouguenouch, Fatima Zahra Mernisi
フォーマット:	Artigo
言語:	Inglês
出版事項:	SpringerOpen 2022-11-01
シリーズ:	Egyptian Journal of Medical Human Genetics
主題:	Xeroderma pigmentosum Rare autosomal recessive XPC XPA Tumor Mutation
オンライン･アクセス:	https://doi.org/10.1186/s43042-022-00368-9
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