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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Publicat a:Endocrinol Diabetes Metab Case Rep
Autors principals: Del Prete, Michela, Muratori, Fabrizio, Campi, Irene, Di Sacco, Gianleone, Vignati, Federico, Pellegrino, Domenico, Persani, Luca
Format: Artigo
Idioma:Inglês
Publicat: Bioscientifica Ltd 2021
Matèries:
Unique/Unexpected Symptoms or Presentations of a Disease
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8115414/
https://ncbi.nlm.nih.gov/pubmed/33960321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-21-0023
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