A Novel Thyroid Hormone Receptor Beta Mutation (G357R) in a Family with Resistance to Thyroid Hormone Beta: Extending the Borders of the "Hot" Region in the THRB Gene

被引：3

作者：

Censi, Simona ^{[1
]}

Barollo, Susi ^{[1
]}

Watutantrige-Fernando, Sara ^{[1
]}

Manso, Jacopo ^{[1
]}

Ferrara, Alfonso Massimiliano ^{[2
]}

Mian, Caterina ^{[1
]}

机构：

[1] Univ Padua, Dept Med DIMED, Endocrinol Unit, I-35128 Padua, Italy

[2] Veneto Inst Oncol IOV IRCCS, Familial Canc Clin & Oncoendocrinol, Padua, Italy

来源：

THYROID | 2019年 / 29卷 / 03期

关键词：

RTH beta; THRB gene; novel mutation;

D O I：

10.1089/thy.2018.0201

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Resistance to thyroid hormone beta (RTH beta) is a syndrome characterized by high serum levels of thyroid hormone and unsuppressed serum thyrotropin concentrations. RTH beta is caused by mutations in the thyroid hormone receptor beta (THRB) gene, which are mostly clustered in three "hot" regions along the gene. Here, a report is given on a family with RTH beta caused by a novel mutation in the THRB gene (c.1069 G>C, p.G357R) occurring outside the historically known "hot" regions.

引用

页码：449 / 451

页数：3

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