ArticleJournal of the ASEAN Federation of Endocrine Societies2024
R243W Mutation in Thyroid Hormone Resistance Syndrome Beta: A Case Report.
Article in Journal of the ASEAN Federation of Endocrine Societies, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- [Resistance to thyroid hormone syndrome with developmental disorders in two children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
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Authors and funding
5 authors.
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No grant is acknowledged in the PubMed record.
Abstract
A three-year-old girl with a history of recurrent tonsillitis was investigated for failure to thrive and global developmental delay. Clinically, she had a triangular face with low-set ears and intermittent tachycardia. She had growth failure with her weight under the third centile while her height was within normal limits. Other systemic examinations were unremarkable. The presence of an elevated free T4 (FT4) with an inappropriately high thyroid stimulating hormone (TSH) in this patient raised the clinical suspicion of Thyroid Hormone Resistance Syndrome. DNA sequencing confirmed the diagnosis, which showed R243W gene mutation in Thyroid Hormone Receptor-Beta1 (THRB1).
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