作者: V.M. Pereira , S. Geiprasert , T. Krings , J.G.M.P. Caldas , F. Toulgoat
DOI: 10.1177/159101990701300402
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摘要: Neurofibromatosis type 1 (NF-1) is one of the most common inherited diseases and as an autosomal dominant genetic disorder results from NF-1 gene mutation with 100% penetration wide phenotypic variability. The disease can involve a variety tissues derived all three embryonic layers. vasculopathy has been described primarily in peripheral arteries, but arteries supplying CNS may also be involved. Of those, extracranial vertebral involvement commonest important. A series four patients vascular artery review pathophysiology, phenotypes, their management pertinent literature.