A family with a novel TSH receptor activating germline mutation (p.Ala485Val)

@article{Akurin2007AFW,
  title={A family with a novel TSH receptor activating germline mutation (p.Ala485Val)},
  author={Sema Akçurin and Doga Turkkahraman and Carolyn Tysoe and Sian Ellard and Anne De Leener and G. Vassart and Sabine Costagliola},
  journal={European Journal of Pediatrics},
  year={2007},
  volume={167},
  pages={1231-1237}
}
Autosomal dominant nonautoimmune hyperthyroidism (ADNAH) is caused by gain of function mutations in the TSH receptor (TSHr) gene and characterized by toxic thyroid hyperplasia with a variable age of onset in the absence of thyroid antibodies and clinical symptoms of autoimmune thyroid disease in at least two generations. We report here a Turkish family with a novel TSHr gene mutation with distinct features all consistent with ADNAH. Thyroid function tests of the proband were as follows: free T3… CONTINUE READING

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Thyroid-stimulating hormone receptor mutations

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