A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss

Journal article

Open access

Peer reviewed

K. O YARIZ, T WALSH, H AKAY, D DUMAN, A. C AKKAYNAK, M.-C KING and M TEKIN

Clinical genetics, Vol.81(3), pp.289-293

2012

PMID: 21348867

Abstract

Fundamental and applied biological sciences. Psychology

General aspects. Genetic counseling

Otorhinolaryngology. Stomatology

Non tumoral diseases

Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology

Medical genetics

Biological and medical sciences

Molecular and cellular biology

Genetics of eukaryotes. Biological and molecular evolution

Medical sciences

url

https://doi.org/10.1111/j.1399-0004.2011.01654.xView

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.257 Birth defects; 1.257.983 Hydrocephalus
Web Of Science research areas: Genetics & Heredity
ESI research areas: Clinical Medicine

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Title: A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss
Creators: K. O YARIZ - Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States
T WALSH - Department of Medicine (Medical Genetics), University of Washington, Seattle, WA, United States
H AKAY - Veni Vidi Hospital, Diyarbakir, Turkey
D DUMAN - Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey
A. C AKKAYNAK - Veni Vidi Hospital, Diyarbakir, Turkey
M.-C KING - Department of Medicine (Medical Genetics), University of Washington, Seattle, WA, United States
M TEKIN - Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States
Publication Details: Clinical genetics, Vol.81(3), pp.289-293
Publisher: Wiley-Blackwell; Oxford
Academic Unit: Miller School of Medicine; UMMG Dept of Human Genetics - Clinical and Translational Genetics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Language: English
Resource Type: Journal article
PMID: 21348867
Record Identifier: 991031575675902976