Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Non-autoimmune 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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Graves disease
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McCune-Albright syndrom
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Non-autoimmune hyperthyroidism
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TSHR
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Susceptibility to thyrotoxic periodic paralysis 1
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| 1. |
Paschke R et al. (1997) The thyrotropin receptor in thyroid diseases. 
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| 2. |
Thomas JS et al. (1982) Familial hyperthyroidism without evidence of autoimmunity.
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| 3. |
Kopp P et al. (1995) Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.
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| 4. |
Duprez L et al. (1994) Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.
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| 5. |
de Roux N et al. (1996) A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism.
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| 6. |
Hollingsworth DR et al. (1976) Congenital graves disease. Four familial cases with long-term follow-up and perspective.
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| 7. |
Hollingsworth DR et al. (1972) Hereditary aspects of Graves' disease in infancy and childhood.
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| 8. |
Orphanet article Orphanet ID 424
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| 9. |
OMIM.ORG article Omim 609152
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