A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment-Reference-Cited by-同舟云学术

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A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment

Published:2017-02 Issue:2 Volume:38 Page:173-179
ISSN:1531-7129
Container-title:Otology & Neurotology
language:en
Short-container-title:

Author:

Wolf Axel,Frohne Alexandra,Allen Matthew,Parzefall Thomas,Koenighofer Martin,Schreiner Markus M.,Schoefer Christian,Frei Klemens,Lucas Trevor

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical),Sensory Systems,Otorhinolaryngology

Reference24 articles.

1. Epidemiology of permanent childhood hearing impairment in Trent Region, 1985–1993;Fortnum;Br J Audiol,1997

2. Genetic epidemiology of hearing impairment;Morton;Ann N Y Acad Sci,1991

3. Cellular and deafness mechanisms underlying connexin mutation-induced hearing loss—a common hereditary deafness;Wingard;Front Cell Neurosci,2015

4. Connexin-26 mutations in sporadic and inherited sensorineural deafness;Estivill;Lancet,1998

5. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling;Denoyelle;Lancet,1999

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1. Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?;Journal of Assisted Reproduction and Genetics;2022-01-29

2. Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene;Scientific Reports;2021-10-25

3. Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model;International Journal of Molecular Sciences;2021-03-10

4. Toward the pathogenicity of the SLC26A4 p.C565Y variant using a genetically driven mouse model;2020-04-29

5. Genetics of vestibular syndromes;Current Opinion in Neurology;2018-02

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