Bei Schilddrüsenkarzinom mit Thyreotoxikose findet man somatische aktivierende Mutationen in dem TSHR-Gen, welches den TSH-Rezeptor kodiert. Diese Mutationen lassen sich auch in Metastasen nachweisen und können dort ebenfalls zur Thyreotoxikose beitragen.
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OMIM.ORG article Omim 603372 |