Genotype and Phenotype Analyses of a Novel <i>WFS1</i> Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38

Genotype and Phenotype Analyses of a Novel <i>WFS1</i> Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38

The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients identified with this variant. Therefore, we describe the genotype and phenotype in a large Dutch–German family (W21-1472) with autosomal domina...

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Bibliographic Details
Main Authors: Hedwig M. Velde, Xanne J. J. Huizenga, Helger G. Yntema, Lonneke Haer-Wigman, Andy J. Beynon, Jaap Oostrik, Sjoert A. H. Pegge, Hannie Kremer, Cris P. Lanting, Ronald J. E. Pennings
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Genes
Subjects:
hereditary hearing loss
<i>WFS1</i>
DFNA6/14/38
human genetics
autosomal dominant hearing loss
low-frequency sensorineural hearing loss
Online Access:https://www.mdpi.com/2073-4425/14/2/457

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https://www.mdpi.com/2073-4425/14/2/457

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