Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

2018280 citationsJournal Articlehybrid Open Access

Authors

Lara Al-Olabi · Great Ormond Street Hospital

Satyamaanasa Polubothu · Great Ormond Street Hospital

Katherine Dowsett · Edinburgh Cancer Research

Katrina Andrews · University of Cambridge

Paulina Stadnik · Great Ormond Street Hospital

Agnel Praveen Joseph · Birkbeck, University of London

Rachel Knox

Abstract

This work was funded or supported by grants from the AVM Butterfly Charity, the Wellcome Trust (UK), the Medical Research Council (UK), the UK National Institute for Health Research, the L'Oreal-Melanoma Research Alliance, the European Research Council, and the National Human Genome Research Institute (US).

Topics & Keywords

Vascular Malformations Diagnosis and Treatment Vascular Malformations and Hemangiomas Moyamoya disease diagnosis and treatment

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Journal of Clinical Investigation

Volume 128, Issue 4, pp. 1496-1508

DOI: 10.1172/jci98589

Field-Weighted Citation Impact: 19.54