首页> Journal of medical genetics> <i>RASA1</i> mosaic mutations in patients with capillary malformation-arteriovenous malformation.

<i>RASA1</i> mosaic mutations in patients with capillary malformation-arteriovenous malformation.

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第一作者： Nicole,Revencu

第一单位： Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium nicole.revencu@uclouvain.be.;Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium; VASCERN VASCA European Reference Center.

作者： Nicole,Revencu ^[1] ; Elodie,Fastre ^[2] ; Marie,Ravoet ^[2] ; Raphaël,Helaers ^[3] ; Pascal,Brouillard ^[3] ; Annouk,Bisdorff-Bresson ^[4] ; Clara W T,Chung ^[5] ; Marion,Gerard ^[6] ; Veronika,Dvorakova ^[7] ; Alan D,Irvine ^[7] ; Laurence M,Boon ^[8] ; Miikka,Vikkula ^[9]

作者单位： Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium nicole.revencu@uclouvain.be.;Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium; VASCERN VASCA European Reference Center. ^[1] Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium. ^[2] Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium. ^[3] Neuroradiology, Center for arteriovenous malformations in children and adults, Hopital Lariboisiere, Paris, France. ^[4] Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia. ^[5] Service de Génétique Médicale, Centre Hospitalier Universitaire de Caen, Caen, France. ^[6] Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland. ^[7] Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.;Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium; VASCERN VASCA European Reference Center. ^[8] Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium; VASCERN VASCA European Reference Center.;Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium. ^[9]

关键词 RASA1 capillary malformation-arteriovenous malformation mosaic mutation second hit