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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Detalles Bibliográficos
Autores principales: Bramhall, Naomi F, Kallman, Jeremy C, Verrall, Aimee M, Street, Valerie A
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2435521/
https://www.ncbi.nlm.nih.gov/pubmed/18518985
http://dx.doi.org/10.1186/1471-2350-9-48

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