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Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype

Xeroderma Pigmentosum (XP) is a rare genetic disorder affecting the nucleotide excision repair system (NER). It is characterized by an extreme sensitivity to sunlight that induces cutaneous disorders such as severe sunburn, freckling and cancers. In Tunisia, six complementation groups have been alre...

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Principais autores: Imen Nabouli, Asma Chikhaoui, Houcemeddine Othman, Sahar Elouej, Meriem Jones, Arnaud Lagarde, Meriem Ben Rekaya, Olfa Messaoud, Mohamed Zghal, Valerie Delague, Nicolas Levy, Annachiara De Sandre-Giovannoli, Sonia Abdelhak, Houda Yacoub-Youssef
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021-05-01
coleção:Frontiers in Genetics
Assuntos:
xeroderma pigmentosum
NER defects
skin cancer
ERCC4/XPF
DDB2 gene
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fgene.2021.650639/full
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