Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Familial gestational hyperthyroidism is an autosomal dominant disorder caused by activating mutations of the TSHR gene.
Hyperthyroidism
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Familial gestational hyperthyroidism
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TSHR
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Graves disease
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McCune-Albright syndrom
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Non-autoimmune hyperthyroidism
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Susceptibility to thyrotoxic periodic paralysis 1
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Rodien P et al. (1998) Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin. 
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Grossmann M et al. (1997) Novel insights into the molecular mechanisms of human thyrotropin action: structural, physiological, and therapeutic implications for the glycoprotein hormone family.
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OMIM.ORG article Omim 603373
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Orphanet article Orphanet ID 99819
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