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

SUMMARY: 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 v...

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Detalles Bibliográficos
Autores principales: Del Prete, Michela, Muratori, Fabrizio, Campi, Irene, Di Sacco, Gianleone, Vignati, Federico, Pellegrino, Domenico, Persani, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8115414/
https://www.ncbi.nlm.nih.gov/pubmed/33960321
http://dx.doi.org/10.1530/EDM-21-0023

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