Article
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.
American journal of human genetics - 2 Mar 2017
Couto Javier A, Huang August Y, Konczyk Dennis J, Goss Jeremy A, Fishman Steven J, Mulliken John B, Warman Matthew L, Greene Arin K
Abstract excerpt
Arteriovenous malformation (AVM) is a fast-flow, congenital vascular anomaly that may arise anywhere in the body. AVMs typically progress, causing destruction of surrounding tissue and, sometimes, cardiac overload. AVMs are difficult to control; they often re-expand after embolization or resection, and pharmacologic therapy is unavailable. We studied extracranial AVMs in order to identify their biological basis....
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