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Clin Case Rep. 2021 Feb 08;9(3):1055-1059. doi: 10.1002/ccr3.3497. eCollection 2021 Mar.

Resistance to thyroid hormone caused by heterozygous mutation of thyroid hormone receptor B gene c.G1378A: Report of one Chinese pedigree and literature review.

Clinical case reports

Bingkun Huang, Changqin Liu, Fangsen Xiao, Peiying Huang, Jinyang Zeng, Zheng Chen, Mingzhu Lin, Xuejun Li

Affiliations

  1. Department of Endocrinology and Diabetes The First Affiliated Hospital of Xiamen University Xiamen China.
  2. Xiamen Clinical Medical Center for Endocrine and Metabolic Diseases The First Affiliated Hospital of Xiamen University Xiamen China.
  3. Fujian Province Key Laboratory of Diabetes Translational Medicine Xiamen China.
  4. Xiamen Diabetes Institute Xiamen China.

PMID: 33768782 PMCID: PMC7981654 DOI: 10.1002/ccr3.3497

Abstract

The same thyroid hormone receptor B gene (THRB) mutation led to thyroid hormone resistance with different clinical manifestations in the kindreds.

© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

Keywords: mutation; resistance to thyroid hormone; thyroid hormone receptor B

Conflict of interest statement

The authors declare that they have no conflict of interest.

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