Genotype and Phenotype Analyses of a Novel WFS1 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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957259/
https://www.ncbi.nlm.nih.gov/pubmed/36833385
http://dx.doi.org/10.3390/genes14020457

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957259/
https://www.ncbi.nlm.nih.gov/pubmed/36833385
http://dx.doi.org/10.3390/genes14020457

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