Article
Clinical and molecular characteristics of Pendred syndrome.
Annales d'endocrinologie - 1 Apr 2011
Kopp P, Bizhanova A
Abstract excerpt
Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness, goiter and a partial defect in the organification of iodide. It is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a multifunctional anion exchanger. At the level of the inner ear, pendrin is important for the creation of a normal endolymph composition and the maintenance of the endocochlear potential....
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