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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2021-05-01
Edice:	Frontiers in Genetics
Témata:	xeroderma pigmentosum NER defects skin cancer ERCC4/XPF DDB2 gene
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fgene.2021.650639/full
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!