Resistance to thyroid hormone caused by heterozygous mutation of thyroid hormone receptor B gene c.G1378A: Report of one Chinese pedigree and literature review-Reference-Cited by-同舟云学术

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

Published:2021-02-08 Issue:3 Volume:9 Page:1055-1059
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Huang Bingkun¹²³^ORCID,Liu Changqin¹²³,Xiao Fangsen¹²³,Huang Peiying¹²³,Zeng Jinyang¹²³,Chen Zheng¹²³,Lin Mingzhu¹²³⁴,Li Xuejun¹²³⁴

Affiliation:

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

Funder

Natural Science Foundation of Fujian Province

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.3497

Reference24 articles.

1. The syndromes of resistance to thyroid hormone;Refetoff S;Endocr Rev,1993

2. Familial Syndrome Combining Deaf-Mutism, Stippled Epiphyses, Goiter and Abnormally High PBI: Possible Target Organ Refractoriness to Thyroid Hormone12

3. Tight Linkage between the Syndrome of Generalized Thyroid Hormone Resistance and the Human c-erbAβ Gene

4. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.

5. A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.

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