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Article

Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report.

Medicine - 25 Apr 2023

Feng Jinhua, Lin Shuangzhu, Wang Wei, Chen Qiandui, Wang Wanqi, Li Jiayi, Wang Xinyao

Abstract excerpt

INTRODUCTION: Thyroid hormone resistance (RTH) (mim # 188570) is a rare autosomal dominant genetic disorder characterized by reduced thyroid hormone response in target tissues. The clinical manifestations of RTH vary from no symptoms to symptoms of thyroid hormone deficiency to symptoms of thyroid hormone excess. PATIENT CONCERN AND CLINICAL FINDINGS: A 24-month-old girl presented with growth retardation,...

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Identifiers

PMID: 37115071
DOI: 10.1097/MD.0000000000033587
PMCID: PMC10145980

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