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[Resistance to thyroid hormone syndrome due to p.Cys446Ser variant of THRbeta gene in a pedigree].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2021

Sun Shuguo, Ding Yuanhong, Kong Yan, Wang Fanxiang

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with resistance to thyroid hormone syndrome (RTH). METHODS: Exons 7 to 10 of the THRbeta gene were sequenced for the proband and members of his pedigree. RESULTS: Three patients from the pedigree were identified. All have presented with palpitation, fatigue, goiter, elevated free thyroid hormone and free triiodothyronine, and normal or...

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PMID: 34487525
DOI: 10.3760/cma.j.cn511374-20200619-00457

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