PMC:516044 / 2026-2794 JSONTXT

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{"target":"http://pubannotation.org/docs/sourcedb/PMC/sourceid/516044","sourcedb":"PMC","sourceid":"516044","source_url":"http://www.ncbi.nlm.nih.gov/pmc/516044","text":"Pendred syndrome is a relatively common autosomal-recessive disorder characterized by deafness and goiter [1]. The syndrome is caused by mutations of the PDS gene SLC26A4, which codes for the protein pendrin [2]. Deafness is congenital and generally profound although sometimes late in onset and provoked by light head injury. Vestibular dysfunction is uncommon. Goiter is variable and generally develops around puberty [3]. The cause of goiter appears to be an impairment of iodide fixation in the follicular lumen due to a reduced rate of iodide transport across the apical membrane of thyroid gland epithelial cells [4]. 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