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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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Principais autores: Vincent Van Rompaey, Hanne Gommeren, Joyce Bosmans, Dorien Verdoodt, Sebastien JanssensdeVarebeke, Erik de Vrieze, Ronald Pennings, Raymond Van de Berg, Marc Lammers, Olivier Vanderveken, Erik Fransen, Guy Van Camp, Erwin Van Wijk
Formato: Artigo
Idioma:Inglês
Publicado em: Royal Belgian Society of Oto-Rhino-Laryngology, Head and Neck Surgery 2022-10-01
coleção:B-ENT
Assuntos:
Auditory
balance disorder
cochlear implants
dysequilibrium
sensorineural hearing loss
Acesso em linha:https://b-ent.be/index.php/pub/article/view/937
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