Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant

Background and Objectives. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It is caused by the thyroid-stimulating hormone receptor (TSHR) gene variants. So far, only around 40 families with FNAH have been reported. Patients with activa...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Medicina (Kaunas)
Prif Awduron: Suput Omladic, Jasna, Pajek, Maja, Groselj, Urh, Trebusak Podkrajsek, Katarina, Avbelj Stefanija, Magdalena, Zerjav Tansek, Mojca, Kotnik, Primoz, Battelino, Tadej, Smigoc Schweiger, Darja
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: MDPI 2021
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7996546/
https://ncbi.nlm.nih.gov/pubmed/33669123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/medicina57030196
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