Article
Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene.
Thyroid : official journal of the American Thyroid Association - 1 Oct 1999
Pohlenz J, Schönberger W, Koffler T, Refetoff S
Abstract excerpt
Resistance to thyroid hormone (RTH), usually caused by an inherited defect of the thyroid hormone receptor, (TRbeta), results in a reduced responsiveness of target tissues to thyroid hormone. Until now, more than 600 cases with RTH have been identified. Although usually linked to the TRbeta gene, located on chromosome 3, RTH may also occur in the absence of mutations in the coding region of this gene. We report a...
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