首页> The Journal of investigative dermatology> Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV).

Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV).

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第一作者： Martina,De Bortoli

第一单位： Laboratory of Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium.

作者： Martina,De Bortoli ^[1] ; Angela,Queisser ^[1] ; Van Cuong,Pham ^[2] ; Anne,Dompmartin ^[3] ; Raphaël,Helaers ^[1] ; Simon,Boutry ^[4] ; Cathy,Claus ^[5] ; An-Katrien,De Roo ^[6] ; Frank,Hammer ^[7] ; Pascal,Brouillard ^[1] ; Salim,Abdelilah-Seyfried ^[2] ; Laurence M,Boon ^[8] ; Miikka,Vikkula ^[9]

作者单位： Laboratory of Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium. ^[1] Institute of Biochemistry and Biology, University of Potsdam, Potsdam, Germany. ^[2] Department of Dermatology, VASCERN VASCA European Reference Center, Université de Caen Basse Normandie, Caen, France. ^[3] Laboratory of Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles-Vrije Universiteit Brussel, Brussels, Belgium. ^[4] Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium. ^[5] Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium; Service d'anatomopathologie, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium; Institute of Experimental and Clinical Research, UCLouvain, Brussels, Belgium. ^[6] Department of Medical Imaging, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium. ^[7] Laboratory of Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium. ^[8] Laboratory of Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium; WELBIO Department, WEL Research Institute, Wavre, Belgium. Electronic address: miikka.vikkula@uclouvain.be. ^[9]

关键词 Endothelial NGS PI3K signaling Somatic Zebrafish