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Article

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

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Oct 2020

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

Abstract excerpt

Resistance to thyroid hormone (RTH) is a rare congenital disorder characterized by impaired sensitivity of target tissues to thyroid hormone. The disease is mostly caused by heterozygous mutations of thyroid hormone receptor β (THRB) gene. We present a ten-year-old Taiwanese boy with goiter, mood disturbances and attention deficit hyperactivity disorder (ADHD). Blood tests showed elevated serum thyroxine (T4) and...

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Identifiers

PMID: 32505587
DOI: 10.1016/j.jfma.2020.05.035

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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