Article
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism.
Thyroid : official journal of the American Thyroid Association - 1 May 2006
Nwosu Benjamin U, Gourgiotis Loukas, Gershengorn Marvin C, Neumann Susanne
Abstract excerpt
Constitutively-activating germline mutations of the thyrotropin receptor (TSHR) gene are very rare and are considered the cause of hereditary nonautoimmune hyperthyroidism. We describe four affected individuals from a Caucasian family: a mother and her three children, and an unaffected father. The mother and her first two children presented in a similar manner: lifelong histories of heat intolerance,...
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