The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review

Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which encodes the calcium-binding protein otoferlin, are responsible for 1–8% of congenital, nonsyndromic hearing loss and are the leading cause of auditory neuropathy spectrum disorders. The natural history of otoferl...

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Detalles Bibliográficos
Autores principales: Ford, Charles L., Riggs, William J., Quigley, Tera, Keifer, Orion P., Whitton, Jonathon P., Valayannopoulos, Vassili
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511631/
https://www.ncbi.nlm.nih.gov/pubmed/37679651
http://dx.doi.org/10.1007/s00439-023-02595-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511631/
https://www.ncbi.nlm.nih.gov/pubmed/37679651
http://dx.doi.org/10.1007/s00439-023-02595-5

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