Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature

Background and objectives: Otoferlin is a multi-C2 domain protein implicated in neurotransmitter-containing vesicle release and replenishment of the cochlear inner hair cell (IHC) synapses. Mutations in the OTOF gene have been associated with two different clinical phenotypes: a prelingual severe-to...

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Detalles Bibliográficos
Autores principales: Forli, Francesca, Capobianco, Silvia, Berrettini, Stefano, Bruschini, Luca, Romano, Silvia, Fogli, Antonella, Bertini, Veronica, Lazzerini, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9962730/
https://www.ncbi.nlm.nih.gov/pubmed/36837553
http://dx.doi.org/10.3390/medicina59020352

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9962730/
https://www.ncbi.nlm.nih.gov/pubmed/36837553
http://dx.doi.org/10.3390/medicina59020352

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