Familial Non-autoimmune Hyperthyroidism in Family Members Across Four Generations Due To a Novel Disease-causing Variant in The Thyrotropin Receptor Gene

Activating disease-causing variants in the thyrotropin-receptor (TSHR) gene are associated with familial or sporadic congenital non-autoimmune hyperthyroidism. Familial non-autoimmune hyperthyroidism (FNAH) is a rare form of hyperthyroidism with 41 families reported so far in the TSHR gene mutation...

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Detalles Bibliográficos
Autores principales: Malej, A, Avbelj Stefanija, M, Bratanič, N, Trebušak Podkrajšek, K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8009563/
https://www.ncbi.nlm.nih.gov/pubmed/33816077
http://dx.doi.org/10.2478/bjmg-2020-0022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8009563/
https://www.ncbi.nlm.nih.gov/pubmed/33816077
http://dx.doi.org/10.2478/bjmg-2020-0022

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