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Article Abstract
Nonautoimmune hyperthyroidism caused by activating mutations in the gene is a rare condition. In this study, we report a five-year-old girl diagnosed with nonautoimmune hyperthyroidism and tall stature harboring a somatic mosaic gain-of-function mutation in the gene (NM_080425.3: c.2530C>T;p.Arg844Cys previously reported as NM_000516.5:c.601C>T;p.Arg201Cys) and referred to thereafter as R201C, in three of four quadrants of the thyroid gland. Provision of a molecular diagnosis may avoid unnecessary complete ablation of the thyroid gland.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187975 | PMC |
| http://dx.doi.org/10.1089/thy.2019.0471 | DOI Listing |
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