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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Detalles Bibliográficos
Autores principales: Nabouli, Imen, Chikhaoui, Asma, Othman, Houcemeddine, Elouej, Sahar, Jones, Meriem, Lagarde, Arnaud, Rekaya, Meriem Ben, Messaoud, Olfa, Zghal, Mohamed, Delague, Valerie, Levy, Nicolas, De Sandre-Giovannoli, Annachiara, Abdelhak, Sonia, Yacoub-Youssef, Houda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8203331/
https://www.ncbi.nlm.nih.gov/pubmed/34135938
http://dx.doi.org/10.3389/fgene.2021.650639

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