Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy-Reference-Cited by-同舟云学术

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Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy

Published:2020-10 Issue:10 Volume:119 Page:1546-1549
ISSN:0929-6646
Container-title:Journal of the Formosan Medical Association
language:en
Short-container-title:Journal of the Formosan Medical Association

Author:

Liu Zhen,Tsai Wen-Yu,Lee Cheng-Ting

Funder

National Taiwan University Hospital

Publisher

Elsevier BV

Subject

General Medicine

Reference11 articles.

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

2. Thyroid hormone resistance;Agrawal;Postgrad Med,2008

3. Mutational landscape of resistance to thyroid hormone beta (RTHbeta);Concolino;Mol Diagn Ther,2019

4. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism;Refetoff;J Clin Endocrinol Metab,2014

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the AmericanCollege of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Thyroid hormone resistance: Mechanisms and therapeutic development;Molecular and Cellular Endocrinology;2022-08

2. Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance;Endocrine Connections;2022-01-01

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