Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy
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 di...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2020-10-01
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Series: | Journal of the Formosan Medical Association |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664620302254 |