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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Bibliografiske detaljer
Udgivet i:Hum Genet
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2016
Fag:
Original Investigation
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5215284/
https://ncbi.nlm.nih.gov/pubmed/27838790
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-016-1746-7
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