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See Latest ArticlesClinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes
Diabetes Care, 10/29/08
Rubio-Cabezas O et al. - FOXP3 mutations result in approximately 4% of cases of males with permanent diabetes diagnosed before 6 months. Patients not only have the classical IPEX syndrome but, unexpectedly, may have a more benign phenotype. FOXP3 sequencing should be performed in any male patient diagnosed with diabetes in the first 6 months who develops other possible autoimmune associated conditions, even in the absence of the full IPEX syndrome.
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