Journal
NATURE GENETICS
Volume 27, Issue 1, Pages 20-21Publisher
NATURE AMERICA INC
DOI: 10.1038/83713
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Funding
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [R37HD017427, R01HD017427] Funding Source: NIH RePORTER
- NICHD NIH HHS [HD17427] Funding Source: Medline
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IPEX is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance (MIM 304930). We present genetic evidence that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome. Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11.23-Xq13.3 (refs. 1,2).
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