Clinical Course of Vestibular Symptoms and Hearing Loss in a Patient with Enlarged Vestibular Aqueduct Caused by <i>SLC26A4</i> Variants
Author:
Affiliation:
1. Department of Otolaryngology Head and Neck Surgery, Shinshu University School of Medicine
Publisher
Japan Society of Equilibrium Research
Link
https://www.jstage.jst.go.jp/article/jser/83/3/83_181/_pdf
Reference13 articles.
1. 1) Usami SI, Nishio SY: The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients. Hum Genet 141: 665–681, 2022
2. 2) Tsukamoto K, Suzuki H, Harada D, et al.: Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: A unique spectrum of mutations in Japanese. Eur J Hum Genet 11: 916–922, 2003
3. 3) Miyagawa M, Nishio SY, Usami S, et al.: Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: A large cohort study. J Hum Genet 59: 262–268, 2014
4. 4) Royaux IE, Belyantseva IA, Wu T, et al.: Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome. J Assoc Res Otolaryngol 4: 394–404, 2003
5. 5) Kim HM, Wangemann P: Failure of fluid absorption in the endolymphatic sac initiates cochlear enlargement that leads to deafness in mice lacking pendrin expression. PLoS One 5: e14041, 2010
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