Congenital Goitrous Hypothyroidism, Deafness and Iodide Organification Defect in Four Siblings: Pendred or Pseudo−Pendred Syndrome?

Pendred syndrome (PDS) is an autosomal recessive disorder characterized by congenital deafness, goiter and iodide organification defect. Presence of inner ear malformations is essential for the clinical diagnosis. Most individuals with PDS are clinically and biochemically euthyroid. Mutations in the...

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Detalles Bibliográficos
Autores principales: Kara, Cengiz, Kılıç, Mehtap, Uçaktürk, Ahmet, Aydın, Murat
Formato: Texto
Lenguaje:English
Publicado: Galenos Publishing 2010
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005669/
https://www.ncbi.nlm.nih.gov/pubmed/21274344
http://dx.doi.org/10.4274/jcrpe.v2i2.81

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005669/
https://www.ncbi.nlm.nih.gov/pubmed/21274344
http://dx.doi.org/10.4274/jcrpe.v2i2.81

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