A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings

BACKGROUND: Low frequency sensorineural hearing loss (LFSNHL) is an uncommon clinical finding. Mutations within three different identified genes (DIAPH1, MYO7A, and WFS1) are known to cause LFSNHL. The majority of hereditary LFSNHL is associated with heterozygous mutations in the WFS1 gene (wolframi...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Bramhall, Naomi F, Kallman, Jeremy C, Verrall, Aimee M, Street, Valerie A
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2008
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2435521/
https://ncbi.nlm.nih.gov/pubmed/18518985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-9-48
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires