Vestibular symptoms and associated gene mutations in non-syndromic hereditary deafness: a review of the literature and the database
Author:
Affiliation:
1. Department of Otolaryngology - Head and Neck Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
2. Department of Otolaryngology, Saitama Medical University
Publisher
Japan Society of Equilibrium Research
Subject
Neurology (clinical),Otorhinolaryngology
Link
https://www.jstage.jst.go.jp/article/jser/80/2/80_63/_pdf
Reference73 articles.
1. 1) Shearer AE, DeLuca AP, Hildebrand MS, et al.: Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A 107: 21104-21109, 2010
2. 2) Kharkovets T, Hardelin JP, Safieddine S, et al.: KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway. Proc Natl Acad Sci U S A 97: 4333-4338, 2000
3. 3) Marres H, van Ewijk M, Huygen P, et al.: Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2. Arch Otolaryngol Head Neck Surg 123: 573-577, 1997
4. 4) Wesdorp M, de Koning Gans PAM, Schraders M, et al.: Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. Hum Genet 137: 389-400, 2018
5. 5) Mann ZF, Galvez H, Pedreno D, et al.: Shaping of inner ear sensory organs through antagonistic interactions between Notch signalling and Lmx1a. Elife 6: 2017
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