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Article

R243W Mutation in Thyroid Hormone Resistance Syndrome Beta: A Case Report.

Journal of the ASEAN Federation of Endocrine Societies - 1 Jan 2024

Ong Jia Cheng, W Omar W Mohd Hilmi, Tuan Ismail Tuan Salwani, Chatterjee Krishna, Hussain Suhaimi

Abstract excerpt

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)...

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Identifiers

PMID: 39620185
DOI: 10.15605/jafes.039.02.04
PMCID: PMC11604371

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