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. 2025 Nov 21;18(1):1–21. doi: 10.1038/s44321-025-00344-x

Figure 2. Recurrent genetic variants found in vascular malformations.

Figure 2

(A) Venous malformation of the left face (arrowhead, MRI scan). (B) Cervical lymphatic malformation (arrowhead, MRI scan). (C) Extracranial supraclavicular arteriovenous malformation (arrowheads; upper panel, angio-CT scan; lower panel, angiography). Table. Most common variant genes found in vascular malformations (non-exhaustive list). BRBN blue rubber bleb nevus syndrome, CCM cerebral cavernous malformation, CM-AVM capillary malformation-arteriovenous malformation syndrome, HHT hereditary hemorrhagic telangiectasia, MCAP megalencephaly-capillary malformation-polymicrogyria syndrome, PHTS PTEN-hamartoma tumor syndrome, PROS PIK3CA-related overgrowth spectrum. Images courtesy of Dr Antoine Fraissenon (Service de Radiologie Pédiatrique, Hospices Civils de Lyon, Lyon, France).