Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling

N Revencu, M Amyere, R Helaers, E Pairet, E Baselga, M Cordisco, W Chung, J Dubois, J Lacour, L Martorell, J Mazereeuw-Hautier, R Pyeritz, D Amor, A Bisdorff, F Blei, H Bombei, A Dompmartin, D Brooks, J Dupont, M Gonzalez-Ensenat Show all