A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss-Reference-Cited by-同舟云学术

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss

Published:2010-11-02 Issue:12 Volume:120 Page:2489-2493
ISSN:0023-852X
Container-title:The Laryngoscope
language:en
Short-container-title:The Laryngoscope

Author:

Hildebrand Michael S.,Gandolfo Luke,Shearer A. Eliot,Webster Jennifer A.,Jensen Maren,Kimberling William J.,Stephan Dietrich,Huygen Patrick L. M.,Smith Richard J. H.,Bahlo Melanie

Publisher

Wiley

Subject

Otorhinolaryngology

Reference19 articles.

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

2. Van Camp G Smith RJ http://hereditaryhearingloss.org/

3. Mutation in the COCH gene is associated with superior semicircular canal dehiscence;Hildebrand;Am J Med Genet A,2009

4. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction;Robertson;Nat Genet,1998

5. Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families;Yuan;Clin Genet,2008

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1. Pathogenic Variants in the COCH Gene That Lead to Hearing Loss and Vestibular Deficit: Update on DFNA9 and Introducing DFNB110;B-ENT;2022-10-27

2. Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis;Biomolecules;2022-01-27

3. On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice;Hearing Research;2021-03

4. Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss;Human Genetics;2020-06-19

5. Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Deafness;2020-05-02