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Article

Arteriovenous Malformation MAP2K1 Mutation Causes Local Cartilage Overgrowth by a Cell-Non Autonomous Mechanism.

Scientific reports - 10 Mar 2020

Konczyk Dennis J, Goss Jeremy A, Smits Patrick J, Sudduth Christopher L, Al-Ibraheemi Alyaa, Greene Arin K

Abstract excerpt

Extracranial arteriovenous malformation (AVM) is most commonly caused by MAP2K1 mutations in the endothelial cell. The purpose of this study was to determine if local tissue overgrowth associated with AVM is caused by direct or indirect effects of the MAP2K1 mutation (i.e., cell-autonomous or cell-non autonomous). Because cartilage does not have blood vessels, we studied ear AVMs to determine if overgrown...

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Identifiers

PMID: 32157142
DOI: 10.1038/s41598-020-61444-x
PMCID: PMC7064492

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