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

Jia Cheng Ong1,2, W Mohd Hilmi W Omar1, Tuan Salwani Tuan Ismail3

  • 1Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia.

Summary

Thyroid Hormone Resistance Syndrome was diagnosed in a child with developmental delay and growth failure. Genetic testing revealed a specific mutation in the Thyroid Hormone Receptor-Beta1 gene, confirming the rare condition.

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