- A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene
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Park TJ, Kang JK, Seo KW, Kim HJ, Chung YS, Lee KW, Jeong SY, Kim HJ, Kim DJ
- KMID: 2063538
- J Korean Endocr Soc.
- 2007 Aug;22(4):277-281.
- doi: 10.3803/jkes.2007.22.4.277
Resistance syndrome to thyroid hormone (RTH) is a rare autosomal dominant disease that is characterized by decreased tissue responsiveness to thyroid hormone, and it is mainly due to mutations of... -
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- Case of Thyroid Hormone Resistance Syndrome with a Mutation in the Thyroid Hormone Receptor Beta Gene
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Lim SK, Kim SY, Kang JG, Kim CS, Ihm SH, Yoo HJ, Lee SJ
- KMID: 2258892
- Korean J Med.
- 2011 Jun;80(Suppl 2):S220-S226.
In thyroid hormone resistance syndrome (THR) TSH levels are normal or elevated despite thyroid hormone levels being elevated. THR is distinguished from TSH-producing pituitary adenoma by TRH stimulation and alpha-subunit... -
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- Identification of a de novo mutation (H435Y) in the THRB gene in a Korean patient with resistance to thyroid hormone
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Shin JY, Ki CS, Kim JK
- KMID: 2278491
- Korean J Pediatr.
- 2007 Jun;50(6):576-579.
- doi: 10.3345/kjp.2007.50.6.576
The syndrome of resistance to thyroid hormone (RTH) is characterized by reduced tissue sensitivity to thyroid hormone (TH). In the majority of subjects, RTH is caused by mutations in the... -
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