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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.

Thyroid. 2019 Mar;29(3):449-451. doi:10.1089/thy.2018.0201. Epub 2018 Dec 28
Simona Censi 1 , Susi Barollo 1 , Sara Watutantrige-Fernando 1 , Jacopo Manso 1 , Alfonso Massimiliano Ferrara 2 , Caterina Mian 1
Simona Censi 1 , Susi Barollo 1 , Sara Watutantrige-Fernando 1 , Jacopo Manso 1 , Alfonso Massimiliano Ferrara 2 , Caterina Mian 1
+ et al

[No authors listed]

Author information
  • 1 1 Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy.
  • 2 2 Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.

摘要

Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by high serum levels of thyroid hormone and unsuppressed serum thyrotropin concentrations. RTHβ 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 RTHβ caused by a novel mutation in the THRB gene (c.1069 G>C, p.G357R) occurring outside the historically known "hot" regions.

KEYWORDS: RTHβ, THRB gene, novel mutation

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