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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Dades bibliogràfiques
Publicat a:Hum Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2016
Matèries:
Original Investigation
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4796320/
https://ncbi.nlm.nih.gov/pubmed/26969326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-016-1648-8
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