Article
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2011
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
Abstract excerpt
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 that can lead to thyroid goiter. Pendred syndrome is caused by mutations of the SLC26A4 gene. SLC26A4 mutations may...
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