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...

Descripción completa

Detalles Bibliográficos
Autores principales: Wejaphikul, Karn, Dejkhamron, Prapai, Groeneweg, Stefan, Visser, W Edward, Unachak, Kevalee, Meima, Marcel E, Peeters, Robin P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Thyroid
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209051/
http://dx.doi.org/10.1210/jendso/bvaa046.873

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209051/
http://dx.doi.org/10.1210/jendso/bvaa046.873

Ejemplares similares