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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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Detalles Bibliográficos
Autores principales:	Pajek, Maja, Avbelj Stefanija, Magdalena, Trebusak Podkrajsek, Katarina, Suput Omladic, Jasna, Zerjav Tansek, Mojca, Battelino, Tadej, Groselj, Urh
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7765296/ https://www.ncbi.nlm.nih.gov/pubmed/33333891 http://dx.doi.org/10.3390/medicina56120699

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