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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
Assuntos:
Original Investigation
Acesso em linha: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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