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A Case of Cochlear Implantation in a Patient with Mutation in the Coagulation Factor C Homology Gene(W117R) / 대한이비인후과학회지
Article de Ko | WPRIM | ID: wpr-650909
Bibliothèque responsable: WPRO
ABSTRACT
The autosomal dominant deafness disorder at the DFNA9 locus has been described and the clinical aspects extensively characterized, showing adult-onset, progressive sensorineural hearing loss and vestibular dysfunction. DFNA9 is caused by mutations of the human Coagulation factor C homology (COCH)gene. COCH encodes cochlin, a highly abundant secreted protein of unknown function in the inner ear. Several mutations have been identified so far: P51S, V66G, G87W, G88E, V104del, I109T, I109N, W117R, A119T, M512T, C542F, C542T. We hereby report a case of cochlear implantation in a 55-year-old man with bilateral sensorineural hearing loss, which is caused by a mutation in COCH gene (W117R).
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Texte intégral: 1 Indice: WPRIM Sujet Principal: Facteurs de la coagulation sanguine / Implants cochléaires / Implantation cochléaire / Surdité / Surdité neurosensorielle / Oreille interne Type d'étude: Prognostic_studies Limites du sujet: Humans langue: Ko Texte intégral: Korean Journal of Otolaryngology - Head and Neck Surgery Année: 2010 Type: Article
Texte intégral: 1 Indice: WPRIM Sujet Principal: Facteurs de la coagulation sanguine / Implants cochléaires / Implantation cochléaire / Surdité / Surdité neurosensorielle / Oreille interne Type d'étude: Prognostic_studies Limites du sujet: Humans langue: Ko Texte intégral: Korean Journal of Otolaryngology - Head and Neck Surgery Année: 2010 Type: Article