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Resistance to Thyroid Hormone Caused by Heterozygous Mutation of Thyroid Hormone Receptor B Gene c.G1378A Report of One Chinese Pedigree and Literature Review
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  • Bingkun Huang,
  • Changqin Liu,
  • Fangsen Xiao,
  • Peiying Huang,
  • Jinyang Zeng,
  • Zheng Chen,
  • Mingzhu Lin,
  • Xuejun Li
Bingkun Huang

Corresponding Author:[email protected]

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Changqin Liu
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Fangsen Xiao
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Peiying Huang
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Jinyang Zeng
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Zheng Chen
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Mingzhu Lin
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A 30-year-old female with clinical manifestations of palpitations and goiter was admitted to our department of endocrinology. Laboratory tests showed elevated thyroid hormone with non-suppressed TSH. Genetic analysis identified heterozygous mutation of the THRB exon10 c.G1378A (p.E460K). The proband’s kindreds had the same mutation, but their clinical manifestations were different.
18 Jun 2020Submitted to Clinical Case Reports
28 Jun 2020Submission Checks Completed
28 Jun 2020Assigned to Editor
08 Jul 2020Reviewer(s) Assigned
12 Jul 2020Review(s) Completed, Editorial Evaluation Pending
27 Jul 2020Editorial Decision: Revise Minor
02 Oct 20201st Revision Received
05 Oct 2020Submission Checks Completed
05 Oct 2020Assigned to Editor
05 Oct 2020Review(s) Completed, Editorial Evaluation Pending
13 Oct 2020Editorial Decision: Accept