Fiche publication


Date publication

janvier 2019

Journal

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr GAILLARD Dominique , Pr LABROUSSE Marc , Pr LEBRE Anne-Sophie


Tous les auteurs :
Jouret G, Poirsier C, Spodenkiewicz M, Jaquin C, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, Lebre AS

Résumé

To describe the genetic and phenotypic spectrum of Usher syndrome after 6 years of studies by next-generation sequencing, and propose an up-to-date classification of Usher genes in patients with both visual and hearing impairments suggesting Usher syndrome, and in patients with seemingly isolated deafness.

Référence

Otol. Neurotol.. 2019 Jan;40(1):121-129