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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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| Hoofdauteurs: | , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Galenos Publishing
2010
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3005669/ https://ncbi.nlm.nih.gov/pubmed/21274344 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.v2i2.81 |
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