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 HuGENet guide...

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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2022-01-01
coleção:	Biomolecules
Assuntos:	DFNA9 <i>COCH</i> genotype-phenotype correlations systematic review autosomal dominant hearing loss vestibular diseases
Acesso em linha:	https://www.mdpi.com/2218-273X/12/2/220
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