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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Vydáno v:Endocrinol Diabetes Metab Case Rep
Hlavní autoři: Del Prete, Michela, Muratori, Fabrizio, Campi, Irene, Di Sacco, Gianleone, Vignati, Federico, Pellegrino, Domenico, Persani, Luca
Médium: Artigo
Jazyk:Inglês
Vydáno: Bioscientifica Ltd 2021
Témata:
Unique/Unexpected Symptoms or Presentations of a Disease
On-line přístup: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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