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Article

Genetic Causes of Vascular Malformations and Common Signaling Pathways Involved in Their Formation.

Dermatologic clinics - 1 Oct 2022

Rose Aubrey L, Cathey Sara S

Abstract excerpt

The identification of the genetic cause of vascular malformations is improving understanding of pathogenesis of these lesions and also informing potential opportunities for treatment. Somatic activating mutations affecting RAS/MAPK and PIK3/AKT/mTor pathways are implicated in all types of vascular malformations. Pathogenic variants associated with vascular lesions may be germline or somatic. Next-generation...

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PMID: 36243432
DOI: 10.1016/j.det.2022.07.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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