Article
Two common and three novel PDS mutations in Thai patients with Pendred syndrome.
Journal of endocrinological investigation - 1 Dec 2007
Snabboon T, Plengpanich W, Saengpanich S, Sirisalipoch S, Keelawat S, Sunthornyothin S, Khovidhunkit W, Suwanwalaikorn S, Sridama V, Shotelersuk V
Abstract excerpt
Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations in the PDS gene. Most published mutation studies of Pendred syndrome have dealt with Western populations. In this study, we examined clinical and molecular characteristics of 16 affected individuals in 6 unrelated Thai families. Of all the...
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