Identification of a novel THRB mutation causing thyroid hormone resistance syndrome

ABSTRACT Resistance to thyroid hormone syndrome (RTHS) is a rare disorder caused by mutations in the thyroid hormone receptor beta (THRB) gene, resulting in impaired action of thyroid hormones on target tissues and organs. We report a case of a 57-year-old Chinese male who presented with palpitation...

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Prif Awduron:	Jing Yang, Chuan Wang, Li Quan, Sheng Jiang
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Sociedade Brasileira de Endocrinologia e Metabologia 2026-03-01
Cyfres:	Archives of Endocrinology and Metabolism
Pynciau:	Thyroid hormone resistance thyroid hormone receptor beta mutation thyroid hormone resistance syndrome refetoff syndrome
Mynediad Ar-lein:	http://www.scielo.br/pdf/aem/v70n2/2359-4292-aem-70-02-e260006.pdf
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