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Literature DB >> 30976996

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Paola Concolino¹, Alessandra Costella², Rosa Maria Paragliola³.

Abstract

Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). In most cases, the disorder is associated with germline pathogenic variants in the thyroid hormone receptor beta (THRB) gene. This paper summarizes the clinical and biochemical presentation of the disease, providing a comprehensive overview on molecular genetic features. Particular care is given in reporting all identified THRB variants with an assessed or unknown clinical significance. Our aim is to offer a useful tool for clinical and genetic specialists in order to ease clinical diagnosis and genetic counseling.

Entities: Chemical Gene

Mesh：

Substances：

Year: 2019 PMID： 30976996 DOI： 10.1007/s40291-019-00399-w

Source DB: PubMed Journal: Mol Diagn Ther ISSN： 1177-1062 Impact factor: 4.074

149 in total

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Authors: Zhixia Zhou; Chengyu Yang; Fuyan Lv; Wenmiao Liu; Shengli Yan; Hongwei Zang; Miaomiao Li; Fang Wang; Yucui Zang; Shiguo Liu
Journal: J Cell Biochem Date: 2018-08-03 Impact factor: 4.429

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5 in total

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Authors: Zongyan Xie; ChenFei Li; Yaxin An; Dong Zhao; Xuhong Wang
Journal: J Int Med Res Date: 2022-07 Impact factor: 1.573