Report of a family with three generations of undiagnosed familial nonautoimmune hyperthyroidism

Familial nonautoimmune hyperthyroidism (FNAH) is rare and occurs due to a constitutively activating thyroid-stimulating hormone receptor (TSHR) germline mutation. Forty-one families with FNAH have been reported so far. In the study, 17 of 41 families were not diagnosed with FNAH until three generati...

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Bibliografische gegevens
Hoofdauteurs: Alexandra Stephenson, Zoya Punjwani, Markus Eszlinger, Beata Sawicka, Artur Bossowski, Ralf Paschke
Formaat: Artikel
Taal:English
Gepubliceerd in: Bioscientifica 2021-12-01
Reeks:Endocrinology, Diabetes & Metabolism Case Reports
Online toegang:https://edm.bioscientifica.com/view/journals/edm/2021/1/EDM21-0019.xml