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Clin Genet. 2000 Nov;58(5):341-4.

Insights into the pathogenesis of neurofibromatosis 1 vasculopathy.

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Department of Medical Genetics, University of British Columbia and Children's and Women's Health Centre of British Columbia, Vancouver, Canada.


Intrinsic lesions of arterial walls are an important manifestation of neurofibromatosis 1 (NF1). Neurofibromin is expressed in blood vessel endothelial and smooth muscle cells, and NF1 vasculopathy may result from an alteration of neurofibromin function in these cells. Elucidation of the role of neurofibromin in the maintenance and repair of blood vessels may lead to novel approaches to the treatment of NF1 vasculopathy and vascular disease in general.

[Indexed for MEDLINE]

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