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

F Palos | Zendy; María E.R. García-Rendueles | Zendy; David AraújoVilar | Zendy; Marı́a Jesús Obregón | Zendy; Rosa Marı́a Calvo | Zendy; José CameselleTeijeiro | Zendy; Susana B. Bravo | Zendy; Oscar Perez-Guerra | Zendy; Lourdes Loidi | Zendy; Barbara Czarnocka | Zendy; Paula Álvarez | Zendy; Samuel Refetoff | Zendy; Lourdes DomínguezGerpe | Zendy; Clara V. Álvarez | Zendy; Joaquín LadoAbeal | Zendy

Open Access

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

Author(s) -

F Palos,

María E.R. García-Rendueles,

David AraújoVilar,

Marı́a Jesús Obregón,

Rosa Marı́a Calvo,

José CameselleTeijeiro,

Susana B. Bravo,

Oscar Perez-Guerra,

Lourdes Loidi,

Barbara Czarnocka,

Paula Álvarez,

Samuel Refetoff,

Lourdes DomínguezGerpe,

Clara V. Álvarez,

Joaquín LadoAbeal

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-0539

Subject(s) - goiter , pendrin , thyroid , medicine , context (archaeology) , organification , endocrinology , mutation , phenotype , thyroid peroxidase , genetics , iodine deficiency , biology , gene , paleontology , transporter

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 T3 (FT3). In family B, some affected members showed deafness but not goiter.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research