Genotype-Phenotype Correlations of Pathogenic <i>COCH</i> Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

Genotype-Phenotype Correlations of Pathogenic <i>COCH</i> Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

Pathogenic missense variants in <i>COCH</i> are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction. This study is a comprehensive overview of genotype-phenotype correlations using the PRISMA and H...

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Bibliographic Details
Main Authors: Sybren M. M. Robijn, Jeroen J. Smits, Kadriye Sezer, Patrick L. M. Huygen, Andy J. Beynon, Erwin van Wijk, Hannie Kremer, Erik de Vrieze, Cornelis P. Lanting, Ronald J. E. Pennings
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Biomolecules
Subjects:
DFNA9
<i>COCH</i>
genotype-phenotype correlations
systematic review
autosomal dominant hearing loss
vestibular diseases
Online Access:https://www.mdpi.com/2218-273X/12/2/220

Internet

https://www.mdpi.com/2218-273X/12/2/220

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