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Article

Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.

Clinical genetics - 1 Dec 2020

Sudduth Christopher L, McGuire Anna M, Smits Patrick J, Konczyk Dennis J, Al-Ibraheemi Alyaa, Fishman Steven J, Greene Arin K

Abstract excerpt

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. Lesions were cutaneous, reddish-purple with telangiectasias, present at birth, and had defined borders. Histopathology indicated AVM and both lesions contained...

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Identifiers

PMID: 32799314
DOI: 10.1111/cge.13833
PMCID: PMC7955771

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