Article
Preliminary ocular histopathological observations on heterozygous NEMO-deficient mice.
Experimental eye research - 1 Mar 2009
Oster Stephen F, McLeod D Scott, Otsuji T, Goldberg Morton F, Lutty Gerard A
Abstract excerpt
The majority of patients with incontinentia pigmenti (IP) have a mutation in the nuclear factor-kappa-beta essential modulator (NEMO) gene, and mice with a targeted deletion of NEMO exhibit skin pathology remarkably similar to the human disease. This study characterizes the retinal vascular abnormalities of NEMO-deficient mice, and compares this phenotype to known features of human IP. Nineteen heterozygous...
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