Article
First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP-C founder mutation.
Molecular genetics & genomic medicine - 1 Jun 2023
Khalat Najlaa, Messaoud Olfa, Ben Rekaya Mariem, Chargui Mariem, Zghal Mohamed, Zendah Bashir, Saqer Najat, Mokni Mourad, Abdelhak Sonia, Mohamed Othman A
Abstract excerpt
BACKGROUND: Xeroderma pigmentosum is an autosomal recessive disease characterized by a high sensitivity to UV radiations. The disease is clinically and genetically heterogeneous, thus making accurate early clinical diagnosis difficult. Although the disease is considered rare worldwide, previous studies have shown that it is more frequent in Maghreb countries. So far, no genetic study has been published on Libyan...
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