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Arteriovenous Malformation Phenotype Resembling Congenital Hemangioma Contains KRAS Mutations

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 telang...

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Publicado en:Clin Genet
Main Authors: Sudduth, Christopher L., McGuire, Anna M., Smits, Patrick J., Konczyk, Dennis J., Al-Ibraheemi, Alyaa, Fishman, Steven J., Greene, Arin K.
Formato: Artigo
Idioma:Inglês
Publicado: 2020
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7955771/
https://ncbi.nlm.nih.gov/pubmed/32799314
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13833
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