Mutation in the COCH Gene is Associated with Superior Semicircular Canal Dehiscence

Overview

Journal Am J Med Genet A

Specialty Genetics

Date 2009 Jan 24

PMID 19161137

Citations 15

Authors

Michael S Hildebrand

Dylan Tack

Adam DeLuca

In Ae Hur

Jana M Van Rybroek

Sarah J McMordie

Ann Muilenburg

David P Hoskinson

Guy Van Camp

Myles L Pensak

Ian S Storper

Patrick L M Huygen

Thomas L Casavant

Richard J H Smith

Affiliations

Soon will be listed here.

Citing Articles

Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene.

Moyaert J, Gilles A, Mertens G, Lammers M, Gommeren H, Janssens de Varebeke S Sci Rep. 2024; 14(1):184.

PMID: 38167558 PMC: 10762206. DOI: 10.1038/s41598-023-50583-6.

Genotype-Phenotype Correlations of Pathogenic Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.

Robijn S, Smits J, Sezer K, Huygen P, Beynon A, van Wijk E Biomolecules. 2022; 12(2).

PMID: 35204720 PMC: 8961530. DOI: 10.3390/biom12020220.

Traumatic superior semicircular canal dehiscence syndrome: case report and literature review.

Aladham Y, Ahmed O, Hassan S, Francis-Khoury E J Surg Case Rep. 2021; 2021(1):rjaa592.

PMID: 33532052 PMC: 7837340. DOI: 10.1093/jscr/rjaa592.

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies.

Ocak E, Duman D, Tekin M Balkan Med J. 2019; 36(4):206-211.

PMID: 31131597 PMC: 6636654. DOI: 10.4274/balkanmedj.galenos.2019.2019.4.66.

A systematic review of hearing and vestibular function in carriers of the Pro51Ser mutation in the COCH gene.

JanssensdeVarebeke S, Topsakal V, Van Camp G, Van Rompaey V Eur Arch Otorhinolaryngol. 2019; 276(5):1251-1262.

PMID: 30806805 DOI: 10.1007/s00405-019-05322-x.

References

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