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

Pathogenic missense variants in COCH 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 guidelines....

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Detalles Bibliográficos
Autores principales: Robijn, Sybren M. M., Smits, Jeroen J., Sezer, Kadriye, Huygen, Patrick L. M., Beynon, Andy J., van Wijk, Erwin, Kremer, Hannie, de Vrieze, Erik, Lanting, Cornelis P., Pennings, Ronald J. E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Systematic Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961530/
https://www.ncbi.nlm.nih.gov/pubmed/35204720
http://dx.doi.org/10.3390/biom12020220

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961530/
https://www.ncbi.nlm.nih.gov/pubmed/35204720
http://dx.doi.org/10.3390/biom12020220

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