Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid Hypoplasia

Abstract excerpt

Pendred syndrome is an autosomal recessive disorder traditionally defined by sensorineural deafness, goiter, and a partial defect in the organification of iodide (OMIM 274600; http://www.ncbi.nlm.nih.gov/omim) (1). The syndromic association of goiter and deafness was first described by the British practitioner Vaughan Pendred in 1896 (2), and the partial iodide organification defect was recognized by Morgans and...

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