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Autor:
Dennis J. Konczyk, Anna M. McGuire, Steven J. Fishman, Patrick Smits, Christopher L. Sudduth, Alyaa Al-Ibraheemi, Arin K. Greene
Publikováno v:
Clin Genet
Extracranial arteriovenous malformation (AVM) is most commonly caused by a somatic mutation in MAP2K1. We report two patients with vascular anomalies that had an unclear clinical diagnosis most consistent with either an AVM or congenital hemangioma.