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Background Materials for the NIH Undiagnosed Diseases Program

Background is available at the links below for the National Institutes of Health (NIH) announcement of the discovery of a rare genetic disease, the first disease discovered through the NIH Undiagnosed Diseases Program. The findings will be published in the Feb. 3, 2011 issue of the New England Journal of Medicine.

Background Materials

Last updated: July 16, 2013