An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial non-autoimmune hyperthyroidism

Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroid-stimulating hormone receptor (TSHR) gene. In this report, we describe a case of non-autoimmune hyperthyroidism in a patient with TSHR mutation. Our patient...

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Detalles Bibliográficos
Autores principales: Shin, Jung Hyun, Seo, Go Hun, Oh, Seung Hwan, Chung, Woo Yeong, Kim, Hye Young, Kim, Young Mi, Bae, Mi Hye, Park, Kyung Hee, Kwak, Min Jung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788338/
https://www.ncbi.nlm.nih.gov/pubmed/33401884
http://dx.doi.org/10.6065/apem.2040076.038

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