Die familiäre Schwangerschaftshyperthyreose ist eine autosomal dominante Erkrankung, die durch aktivierende Mutationen im TSHR-Gen hervorgerufen wird.
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1. |
Rodien P et al. (1998) Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin. ![]() |
2. |
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![]() |