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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
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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.

Peer review status:UNDER REVIEW

18 Jun 2020Submitted to Clinical Case Reports
28 Jun 2020Assigned to Editor
28 Jun 2020Submission Checks Completed
08 Jul 2020Reviewer(s) Assigned
12 Jul 2020Review(s) Completed, Editorial Evaluation Pending