Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes

OBJECTIVE—Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is caused by FOXP3 mutations. We aimed to determine the prevalence, genetics, and clinical phenotype of FOXP3 mutations in a large cohort with permanent neonatal diabetes (PNDM). RESEARCH DESIGN AND METHODS—The...

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Autors principals: Rubio-Cabezas, Oscar, Minton, Jayne A.L., Caswell, Richard, Shield, Julian P., Deiss, Dorothee, Sumnik, Zdenek, Cayssials, Amely, Herr, Mathias, Loew, Anja, Lewis, Vaughan, Ellard, Sian, Hattersley, Andrew T.
Format: Artigo
Idioma:Inglês
Publicat: American Diabetes Association 2009
Matèries:
Pathophysiology/Complications
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2606841/
https://ncbi.nlm.nih.gov/pubmed/18931102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/dc08-1188
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