Article
[The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)].
Vestnik otorinolaringologii - 1 Jan 2000
Markova T G, Geptner E N, Lalayants M R, Zelikovich E I, Chugunova T I, Mironovich O L, Bliznetz E A, Polyakov A V, Tavartkiladze G A
Abstract excerpt
The aim of this work was a clinical study of the patients with mutations in the SLC26A4 gene and clinical diagnosis of the Pendred syndrome. The Pendred syndrome is a hereditary autosomal recessive disorder characterized by combined pathology of the inner ear and the thyroid gland. CT of the temporal bones demonstrates the Mondini-type structural anomaly in the inner ear and enlarged vestibular aqueduct....
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