Pendred Syndrome in Two Galician Families: Insights into Clinical Phenotypes through Cellular, Genetic, and Molecular Studies

Context: We studied two families from Galicia (northwest Spain) with Pendred syndrome (PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter and hypothyroxinemia but normal TSH and free T(3) (FT(3)). In family B, some affected members showed deafness but not goiter. Objec...

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Main Authors: Palos, Fernando, García-Rendueles, María E. R., Araujo-Vilar, David, Obregon, Maria Jesús, Calvo, Rosa Maria, Cameselle-Teijeiro, Jose, Bravo, Susana B., Perez-Guerra, Oscar, Loidi, Lourdes, Czarnocka, Barbara, Alvarez, Paula, Refetoff, Samuel, Dominguez-Gerpe, Lourdes, Alvarez, Clara V., Lado-Abeal, Joaquin
Formato: Artigo
Idioma:Inglês
Publicado em: The Endocrine Society 2008
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2190748/
https://ncbi.nlm.nih.gov/pubmed/17940114
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2007-0539
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