Identification of a rare COCH mutation by whole-exome sequencing: Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss

BACKGROUND: Non-syndromic autosomal dominant hearing impairment is characteristically postlingual in onset. Genetic diagnostics are essential for genetic counselling, disease prognosis and understanding of the molecular mechanisms of disease. To date, 36 causative genes have been identified, many in...

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Detalles Bibliográficos
Autores principales: Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Kirchnawy, Andreas, Streubel, Berthold, Schoefer, Christian, Gstoettner, Wolfgang, Frei, Klemens, Lucas, Trevor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Vienna 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966484/
https://www.ncbi.nlm.nih.gov/pubmed/28733840
http://dx.doi.org/10.1007/s00508-017-1230-y

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