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...

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Bibliographic Details
Main Authors: Zhen Liu, Wen-Yu Tsai, Cheng-Ting Lee
Format: Article
Language:English
Published: Elsevier 2020-10-01
Series:Journal of the Formosan Medical Association
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S0929664620302254