Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.

doi:10.1016/j.jdermsci.2017.10.015

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Article

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.

Journal of dermatological science - 1 Feb 2018

Ben Rekaya Mariem, Naouali Chokri, Messaoud Olfa, Jones Meriem, Bouyacoub Yosra, Nagara Majdi, Pippucci Tommaso, Jmel Haifa, Chargui Mariem, Jerbi Manel, Alibi Mohamed, Dallali Hamza, Bashamboo Anu, McElreavey Kenneth, Romeo Giovanni, Barakat Abdelhamid, Zghal Mohamed, Yacoub-Youssef Houda, Abdelhak Sonia

Abstract excerpt

BACKGROUND: Skin cancers (SC) are complex diseases that develop from complex combinations of genetic and environmental risk factors. One of the most severe and rare genetic diseases predisposing to SC is the Xeroderma pigmentosum (XP) syndrome. OBJECTIVES: First, to identify the genetic etiology of XP and to better classify affected patients. Second, to provide early molecular diagnosis for pre-symptomatic...

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PMID: 29169765
DOI: 10.1016/j.jdermsci.2017.10.015

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DDB2
ERCC2

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