Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Author: Amyere, Mustapha PhD *; Revencu, Nicole MD, PhD *; Helaers, Raphael PhD; Pairet, Eleonore BSC; Baselga, Eulalia MD; Cordisco, Maria MD; Chung, Wendy MD, PhD; Dubois, Josee MD; Lacour, Jean-Philippe MD; Martorell, Loreto MD; Mazereeuw-Hautier, Juliette MD, PhD; Pyeritz, Reed E. MD, PhD; Amor, David J. MD; Bisdorff, Annouk MD; Blei, Francine MD; Bombei, Hannah MSc; Dompmartin, Anne MD, PhD; Brooks, David MD; Dupont, Juliette MD; Gonzalez-Ensenat, Maria Antonia MD; Frieden, Ilona MD; Gerard, Marion MD; Kvarnung, Malin MD; Hanson-Kahn, Andrea Kwan MSc; Hudgins, Louanne MD; Leaute-Labreze, Christine MD; McCuaig, Catherine MD; Metry, Denise MD; Parent, Philippe MD; Paul, Carle MD, PhD; Petit, Florence MD; Phan, Alice MD; Quere, Isabelle MD; Salhi, Aicha MD; Turner, Anne MD; Vabres, Pierre MD; Vicente, Asuncion MD; Wargon, Orli MD; Watanabe, Shoji MD, PhD; Weibel, Lisa MD; Wilson, Ashley MSc; Willing, Marcia MD; Mulliken, John B. MD; Boon, Laurence M. MD, PhD; Vikkula, Miikka MD, PhD

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