Article
Hereditary hearing loss with thyroid abnormalities.
Advances in oto-rhino-laryngology - 1 Jan 2011
Choi Byung Yoon, Muskett Julie, King Kelly A, Zalewski Christopher K, Shawker Thomas, Reynolds James C, Butman John A, Brewer Carmen C, Stewart Andrew K, Alper Seth L, Griffith Andrew J
Abstract excerpt
Mutations in SLC26A4 can cause deafness and goiter in Pendred syndrome (PDS) or isolated non-syndromic enlargement of the vestibular aqueduct (NSEVA). PDS is one of the most common hereditary causes of deafness. It is characterized by autosomal-recessive inheritance of sensorineural hearing loss, enlarged vestibular aqueducts (EVA), and an iodide organification defect with or without goiter. The diagnosis is...
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