Familial Non-autoimmune Hyperthyroidism Caused by an Extracellular Domain Variant (p.Leu267Phe) of the TSH Receptor
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Introduction: Non-autoimmune hyperthyroidism (NAH) is a rare genetic disorder caused by germline activating variants in the TSH receptor (TSHR) gene. While most NAH-related TSHR variants are located in the seven-transmembrane dom... ...
