Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defect in the nucleotide excision repair (NER) DNA repair pathway, characterized by severe sunburn development of freckles, premature skin aging, and susceptibility to develop cancers at an average age of eight. XP is an exam...

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Bibliographic Details
Main Authors: Asma Chikhaoui, Sahar Elouej, Imen Nabouli, Meriem Jones, Arnaud Lagarde, Meriem Ben Rekaya, Olfa Messaoud, Yosr Hamdi, Mohamed Zghal, Valerie Delague, Nicolas Levy, Annachiara De Sandre-Giovannoli, Sonia Abdelhak, Houda Yacoub-Youssef
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Genetics
Subjects:
Xeroderma pigmentosum-G
NER defects
aging
cancer
XP/cockayne syndrome
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00111/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00111/full

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