A rare mutation of thyroid hormone receptor beta gene in thyroid hormone resistance syndrome

Resistance to thyroid hormone (RTH) is a rare hereditary syndrome with impaired sensitivity to thyroid hormones (TH) and reduced intracellular action of triiodothyronine (T3) caused by genetic variants of TH receptor beta (TRB) or alpha (TRA). RTH type beta (RTHβ) due to dominant negative variants i...

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Bibliographic Details
Main Authors: Michela Del Prete, Fabrizio Muratori, Irene Campi, Gianleone Di Sacco, Federico Vignati, Domenico Pellegrino, Luca Persani
Format: Article
Language:English
Published: Bioscientifica 2021-05-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
Online Access:https://edm.bioscientifica.com/view/journals/edm/2021/1/EDM21-0023.xml