Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference38 articles.
1. Thyroid hormone resistance;Agrawal;Postgrad Med J,2008
2. Follow-up of newborns with elevated screening T4 concentrations;Lafranchi;J Pediatr,2003
3. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone;Refetoff;J Clin Endocrinol Metab,1967
4. Identical mutations in unrelated familieswith generalized resistance to thyroid hormone occur in cytosine–guanine-rich areas of the thyroid hormone receptor beta gene: analysis of 15 families;Weiss;J Clin Invest,1993
5. A role for helix 3 of the TR( ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone;Collingwood;EMBO J,1998
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1. Thyroid hormone receptor beta: Relevance in human health and diseases;Endocrine and Metabolic Science;2023-12
2. Thyroid hormone resistance syndrome due to a novel heterozygous mutation and concomitant Hashimoto’s Thyroiditis: A pedigree report;Journal of International Medical Research;2022-07
3. “A TSH That Was Never in Target Range”;Clinical Thyroidology;2022-05-01
4. Update on resistance to thyroid hormone syndromeβ;Italian Journal of Pediatrics;2020-11-11
5. Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones;Thyroid Research;2019-07-15
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