OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

Autor: Varga, R, Avenarius, MR, Kelley, PM, Keats, BJ, Berlin, CI, Hood, LJ, Morlet, TG, Brashears, SM, Starr, A, Cohn, ES, Smith, RJH, Kimberling, WJ

Publikováno v: Varga, R; Avenarius, MR; Kelley, PM; Keats, BJ; Berlin, CI; Hood, LJ; et al.(2006). OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. Journal of Medical Genetics, 43(7), 576-581. doi: 10.1136/jmg.2005.038612. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/4m09d687

Introduction: The majority of hearing loss in children can be accounted for by genetic causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children, with mutations in DFNB1/GJB2 being by far the most common cause. Among the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::6087e5bee4224547e358f32758219e73
http://www.escholarship.org/uc/item/4m09d687

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Multi-site diagnosis and management of 260 patients with Auditory Neuropathy/Dys-synchrony (Auditory Neuropathy Spectrum Disorder*)

Autor: Berlin CI, Hood LJ, Morlet T, Wilensky D, Li L, Mattingly KR, Taylor-Jeanfreau J, Keats BJB, St. John P, Montgomery E, Shallop JK, Russell BA, Frisch SA

Publikováno v: International Journal of Audiology; Jan2010, Vol. 49 Issue 1, p30-43, 14p

Epidemiology of genetic hearing loss.

Autor: Keats BJB, Berlin CI, Gregory P

Publikováno v: Seminars in Hearing; Aug2006, Vol. 27 Issue 3, p136-147, 12p