Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8806466 | International Journal of Pediatric Otorhinolaryngology | 2017 | 22 Pages |
Abstract
Both clinical and molecular approaches led to the conclusion that there is a lack of genotype-phenotype correlation in WS1, an element that must be taken into account in genetic counseling. The absence of PAX3 mutation in one patient WS1 highlights the fact that the clinical classification is sometimes insufficient to distinguish WS1 from other types WS hence the interest of sequencing the other WS genes in this patient.
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Authors
Mediha Trabelsi, Malek Nouira, Faouzi Maazoul, Lilia Kraoua, Rim Meddeb, Ines Ouertani, Imen Chelly, Valérie Benoit, Ghazi Besbes, Ridha Mrad,