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Ectopic expression of mutant proteins in endothelial cells revealed that expression of either mutant reduced cellular proliferation, yet regulated MAPK-signalling differently, suggesting that dysregulated MAPK-signalling cannot fully explain the SWS phenotype. Instead, both mutants reduced synthesis of YAP, a transcriptional co-activator of the Hippo signalling pathway, suggesting a key role for this pathway in the vascular pathogenesis of SWS. The discovery of the GNB2 mutation sheds novel light on the pathogenesis of SWS and suggests t