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Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency

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  1. Article

    Open Access

    A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature

    Germline nonautoimmune hyperthyroidism due to an activating mutation in the thyroid stimulating hormone receptor gene is an uncommon disease. To date 32 different mutations have been described. The severity of th...

    Cæcilie C Larsen, Lefkothea P Karaviti… in International Journal of Pediatric Endocri… (2014)

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  2. Article

    A new TRβ mutation in resistance to thyroid hormone syndrome

    Thyroid hormones (TH) exert their actions by binding nuclear receptors alpha (TRα1) and beta (TRβ1 and TRβ2). Resistance to thyroid hormone (RTH) is a clinical syndrome with various clinical manifestations, it...

    Dr. Corina Neamţu, Claudiu Ţupea, Diana Păun, Anca Hoisescu, Adina Ghemigian… in Hormones (2016)

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