Publications

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Circulation 2017 Sep 7;136(11):1037-1048. Epub 2017 Jul 7.
From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).







Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:



Variable response to propranolol treatment of kaposiform hemangioendothelioma, tufted angioma, and Kasabach-Merritt phenomenon.
Pediatr Blood Cancer 2012 Nov 2;59(5):934-8. Epub 2012 Feb 2.
Department of Dermatology, Division of Pediatric Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.



Spinal dysraphism associated with the cutaneous lumbosacral infantile hemangioma: a neuroradiological review.
Pediatr Radiol 2012 Mar 4;42(3):315-20. Epub 2011 Dec 4.
Department of Dermatology, Children's Hospital of Wisconsin, Medical College of Wisconsin, P. O. Box 1997, Milwaukee, WI 53201-1997, USA.



Emergent medical and surgical management of mediastinal infantile hemangioma with symptomatic spinal cord compression: case report and literature review.
Childs Nerv Syst 2010 Dec 20;26(12):1799-805. Epub 2010 Apr 20.
Division of Pediatric Neurosurgery, Texas Children's Hospital, Baylor College of Medicine, 6621 Fannin Street, CCC 1230.01, 12th Floor, Houston, TX 77030, USA.


Risk for PHACE syndrome in infants with large facial hemangiomas.
Pediatrics 2010 Aug 19;126(2):e418-26. Epub 2010 Jul 19.
Department of Dermatology and Pediatrics, Division of Biostatistics, Indiana University, Indianapolis, Indiana, USA.

Multicenter prospective study of ulcerated hemangiomas.
J Pediatr 2007 Dec 24;151(6):684-9, 689.e1. Epub 2007 Aug 24.
Division of Pediatric Dermatology, Children's Memorial Hospital and Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

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