Sodium/Iodide Symporter Mutant V270E Causes Stunted Growth but No Cognitive Deficiency.


CONTEXT Iodide (I(-)), an essential constituent of the thyroid hormones, is actively accumulated in the thyroid by the Na(+)/I(-) symporter (NIS), a key plasma membrane protein encoded by the slc5a5 gene. Mutations in slc5a5 cause I(-) transport defects (ITDs), autosomal-recessive disorders in which I(-) accumulation is totally or partially impaired… (More)
DOI: 10.1210/jc.2015-1824


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