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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Autors principals:	Meriame Abbassi, Hanane Sayel, Nadia Senhaji, Said Trhanint, Hanane Bay Bay, Laila Bouguenouch, Fatima Zahra Mernisi
Format:	Artigo
Idioma:	Inglês
Publicat:	SpringerOpen 2022-11-01
Col·lecció:	Egyptian Journal of Medical Human Genetics
Matèries:	Xeroderma pigmentosum Rare autosomal recessive XPC XPA Tumor Mutation
Accés en línia:	https://doi.org/10.1186/s43042-022-00368-9
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