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...

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Main Authors: Bramhall, Naomi F, Kallman, Jeremy C, Verrall, Aimee M, Street, Valerie A
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2008
Fag:
Research Article
Online adgang: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
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