A Novel Mutation in the Albumin Gene (R218S) Causing Familial Dysalbuminemic Hyperthyroxinemia in a Family of Bangladeshi Extraction

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 abnorma...

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Autors principals: Greenberg, Solomon Maximo, Ferrara, Alfonso Massimiliano, Nicholas, Everton S., Dumitrescu, Alexandra M., Cody, Vivian, Weiss, Roy E., Refetoff, Samuel
Format: Artigo
Idioma:Inglês
Publicat: Mary Ann Liebert, Inc. 2014
Matèries:
Original StudiesThyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4046191/
https://ncbi.nlm.nih.gov/pubmed/24494774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2013.0540
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