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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Bibliographische Detailangaben
Veröffentlicht in:Front Genet
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2021
Schlagworte:
Genetics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8203331/
https://ncbi.nlm.nih.gov/pubmed/34135938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.650639
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