Article
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.
Genes - 10 Feb 2023
Velde Hedwig M, Huizenga Xanne J J, Yntema Helger G, Haer-Wigman Lonneke, Beynon Andy J, Oostrik Jaap, Pegge Sjoert A H, Kremer Hannie, Lanting Cris P, Pennings Ronald J E
Abstract excerpt
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 dominant non-syndromic, low-frequency sensorineural hearing loss (LFSNHL). Exome sequencing and targeted analysis of a...
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