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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Meriame Abbassi, Hanane Sayel, Nadia Senhaji, Said Trhanint, Hanane Bay Bay, Laila Bouguenouch, Fatima Zahra Mernisi
Format: Artigo
Sprache:Inglês
Veröffentlicht: SpringerOpen 2022-11-01
Schriftenreihe:Egyptian Journal of Medical Human Genetics
Schlagworte:
Xeroderma pigmentosum
Rare autosomal recessive
XPC
XPA
Tumor
Mutation
Online-Zugang:https://doi.org/10.1186/s43042-022-00368-9
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