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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Detaylı Bibliyografya
Asıl Yazarlar: Bramhall, Naomi F, Kallman, Jeremy C, Verrall, Aimee M, Street, Valerie A
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2008
Konular:
Research Article
Online Erişim: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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