SLC26A4 Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct

Enlargement of the vestibular aqueduct (EVA) is the most common inner ear anomaly detected in ears of children with sensorineural hearing loss. Pendred syndrome (PS) is an autosomal recessive disorder characterized by bilateral sensorineural hearing loss with EVA and an iodine organification defect...

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Detalhes bibliográficos
Main Authors: Ito, Taku, Choi, Byung Yoon, King, Kelly A., Zalewski, Christopher K., Muskett, Julie, Chattaraj, Parna, Shawker, Thomas, Reynolds, James C., Butman, John A., Brewer, Carmen C., Wangemann, Philine, Alper, Seth L., Griffith, Andrew J.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2011
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3709178/
https://ncbi.nlm.nih.gov/pubmed/22116369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000335119
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