Article
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
PloS one - 1 Jan 2015
Riahi Zied, Bonnet Crystel, Zainine Rim, Lahbib Saida, Bouyacoub Yosra, Bechraoui Rym, Marrakchi Jihène, Hardelin Jean-Pierre, Louha Malek, Largueche Leila, Ben Yahia Salim, Kheirallah Moncef, Elmatri Leila, Besbes Ghazi, Abdelhak Sonia, Petit Christine
Abstract excerpt
Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigmentosa. We performed...
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