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SAT-434 Phenotype and Genotype Analysis of Patients with Resistance to Thyroid Hormone β: A Single-Center Experience
Introduction Resistance to thyroid hormone β (RTHβ) is caused by mutations in THRB, the gene that encodes thyroid hormone receptor β. The clinical phenotype is variable and may include goiter, tachycardia, and learning disability with or without hyperactive behavior. The biochemical hallmark of RTHβ...
Autores principales: | Wejaphikul, Karn, Dejkhamron, Prapai, Groeneweg, Stefan, Visser, W Edward, Unachak, Kevalee, Meima, Marcel E, Peeters, Robin P |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209051/ http://dx.doi.org/10.1210/jendso/bvaa046.873 |
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