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Article

Etiology and Genetics of Congenital Vascular Lesions.

Otolaryngologic clinics of North America - 1 Feb 2018

Queisser Angela, Boon Laurence M, Vikkula Miikka

Abstract excerpt

The detection of somatic, activating genetic mutations to underlie development of vascular tumors and malformations led to a better understanding of their pathophysiology. Proteins encoded by the detected mutated genes activate the two major signaling pathways, also involved in cancer: the RAS/MAPK/ERK pathway and/or the PI3K/AKT/mTOR pathway. This gives a strong basis for studies to repurpose cancer therapeutics...

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PMID: 29217067
DOI: 10.1016/j.otc.2017.09.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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