SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct

Pendred syndrome (PS) is characterized by autosomal recessive inheritance of goiter associated with a defect of iodide organification, hearing loss, enlargement of the vestibular aqueduct (EVA), and mutations of the SLC26A4 gene. However, not all EVA patients have PS or SLC26A4 mutations. Two mutant...

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Bibliografiske detaljer
Udgivet i:World J Otorhinolaryngol
Main Authors: Ito, Taku, Muskett, Julie, Chattaraj, Parna, Choi, Byung Yoon, Lee, Kyu Yup, Zalewski, Christopher K, King, Kelly A, Li, Xiangming, Wangemann, Philine, Shawker, Thomas, Brewer, Carmen C, Alper, Seth L, Griffith, Andrew J
Format: Artigo
Sprog:Inglês
Udgivet: 2013
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4423814/
https://ncbi.nlm.nih.gov/pubmed/25960948
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5319/wjo.v3.i2.26
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