Article
The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum.
Public health genomics - 1 Jan 2013
Messaoud O, Ben Rekaya M, Jerbi M, Ouertani I, Kefi R, Laroussi N, Bouyacoub Y, Benfadhel S, Yacoub-Youssef H, Boubaker S, Zghal M, Mrad R, Amouri A, Abdelhak S
Abstract excerpt
AIMS: Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis. METHODS: Six consanguineous Tunisian XP families (4 XP-A and 2 XP-C) have benefited from a prenatal diagnosis. Screening for mutations was performed...
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