Pathogenic variants in the COCH gene that lead to hearing loss and vestibular deficit: Update on DFNA9 and introducing DFNB110

Pathogenic variants in the COCH gene that lead to hearing loss and vestibular deficit: Update on DFNA9 and introducing DFNB110

DeaFNess Autosomal Dominant 9 is an autosomal dominant hereditary non-syndromic form of progressive sensorineural hearing loss often associated with vestibular dysfunction. It is caused by over 30 heterozygous pathogenic variants in the COCH gene, which encodes cochlin. The DeaFNess Autosomal Domina...

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Bibliographic Details
Published in:B-ENT Vol. 18, № 4. P. 273-283
Other Authors: Van Rompaey, Vincent, Gommeren, Hanne, Bosmans, Joyce, Verdoodt, Dorien, Janssens de Varebeke, Sebastien, Vrieze, Erik de, Pennings, Ronald, van de Berg, Raymond, Lammers, Marc, Vanderveken, Olivier M., Fransen, Erik, Van Camp, Guy, Van Wijk, Erwin
Format: Article
Language:English
Subjects:
слух
нарушение равновесия
кохлеарные имплантаты
нейросенсорная тугоухость
статьи в журналах
Online Access:http://vital.lib.tsu.ru/vital/access/manager/Repository/koha:001015785
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