Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene

Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by a reduced response of target tissues to thyroid hormones. In 85% of cases, a pathogenic mutation in the thyroid hormone receptor beta (THRB) gene is found. The clinical picture of RTHβ is very diverse; the most common findings...

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Salvato in:
Dettagli Bibliografici
Pubblicato in:Medicina (Kaunas)
Autori principali: Pajek, Maja, Avbelj Stefanija, Magdalena, Trebusak Podkrajsek, Katarina, Suput Omladic, Jasna, Zerjav Tansek, Mojca, Battelino, Tadej, Groselj, Urh
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2020
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7765296/
https://ncbi.nlm.nih.gov/pubmed/33333891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/medicina56120699
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