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. 2019 Feb 14;10:111. doi: 10.3389/fgene.2019.00111

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Copyright © 2019 Chikhaoui, Elouej, Nabouli, Jones, Lagarde, Ben Rekaya, Messaoud, Hamdi, Zghal, Delague, Levy, De Sandre-Giovannoli, Abdelhak and Yacoub-Youssef.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Genetic findings (A) pedigree describing affected family members and electropherogram showing the mutation in ERCC5 gene, exon 11 (c.2333T>C p.L778P) at a homozygous state in the patients (XP174-1 end XP174-2) and at a heterozygous state in the father (XP174-3). Individual labeled in gray color are for suspected patients. (B) Prediction score through SIFT PolyPhen, mutation Taster, and I mutant.