A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

Genetic isolates provide unprecedented opportunities to identify pathogenic mutations and explore the full natural history of clinically heterogeneous phenotypes such as hearing loss. We noticed a unique audioprofile, characterized by prelingual and rapid deterioration of hearing thresholds at frequ...

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Detalles Bibliográficos
Autores principales: Pater, Justin A., Benteau, Tammy, Griffin, Anne, Penney, Cindy, Stanton, Susan G., Predham, Sarah, Kielley, Bernadine, Squires, Jessica, Zhou, Jiayi, Li, Quan, Abdelfatah, Nelly, O’Rielly, Darren D., Young, Terry-Lynn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2016
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215284/
https://www.ncbi.nlm.nih.gov/pubmed/27838790
http://dx.doi.org/10.1007/s00439-016-1746-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215284/
https://www.ncbi.nlm.nih.gov/pubmed/27838790
http://dx.doi.org/10.1007/s00439-016-1746-7

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