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Article

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.

Diabetes care - 1 Jan 2009

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

Abstract excerpt

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 11 coding exons and the polyadenylation region of FOXP3 were sequenced in 26 male subjects with diabetes...

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Source

Open in PubMed Open full text

Identifiers

PMID: 18931102
DOI: 10.2337/dc08-1188
PMCID: PMC2606841

Genes

FOXP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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