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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2011
Soggetti:
Review
Accesso online: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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