Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been completed in a large multiethnic cohort. To determine the aggregate contribution inheritance makes to non-syndromic heari...

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Detalles Bibliográficos
Autores principales: Sloan-Heggen, Christina M., Bierer, Amanda O., Shearer, A. Eliot, Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Ephraim, Sean S., Shibata, Seiji B., Booth, Kevin T., Campbell, Colleen A., Ranum, Paul T., Weaver, Amy E., Black-Ziegelbein, E. Ann, Wang, Donghong, Azaiez, Hela, Smith, Richard J. H.
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/PMC4796320/
https://www.ncbi.nlm.nih.gov/pubmed/26969326
http://dx.doi.org/10.1007/s00439-016-1648-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4796320/
https://www.ncbi.nlm.nih.gov/pubmed/26969326
http://dx.doi.org/10.1007/s00439-016-1648-8

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