Article
Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype.
Journal of neurosurgery - 1 Jan 2022
Gao Sen, Nelson Jeffrey, Weinsheimer Shantel, Winkler Ethan A, Rutledge Caleb, Abla Adib A, Gupta Nalin, Shieh Joseph T, Cooke Daniel L, Hetts Steven W, Tihan Tarik, Hess Christopher P, Ko Nerissa, Walcott Brian P, McCulloch Charles E, Lawton Michael T, Su Hua, Pawlikowska Ludmila, Kim Helen
Abstract excerpt
OBJECTIVE: Sporadic brain arteriovenous malformation (BAVM) is a tangled vascular lesion characterized by direct artery-to-vein connections that can cause life-threatening intracerebral hemorrhage (ICH). Recently, somatic mutations in KRAS have been reported in sporadic BAVM, and mutations in other mitogen-activated protein kinase (MAPK) signaling pathway genes have been identified in other vascular...
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