Article
A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.
Thyroid : official journal of the American Thyroid Association - 1 Jun 2014
Greenberg Solomon Maximo, Ferrara Alfonso Massimiliano, Nicholas Everton S, Dumitrescu Alexandra M, Cody Vivian, Weiss Roy E, Refetoff Samuel
Abstract excerpt
BACKGROUND: Familial dysalbuminemic hyperthyroxinemia (FDH) is a common cause of euthyroid hyperthyroxinemia. Clinical recognition of FDH is crucial for preventing unnecessary therapy in clinically euthyroid patients with abnormal thyroid function tests. Our goal was to identify the cause of abnormal serum tests of thyroid function in a Canadian family of Bangladeshi extraction. PATIENTS: The proposita was found...
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