Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis |
| |
| Authors: | John A. Martignetti,Lifeng Tian,Dong Li,Maria Celeste M. Ramirez,Olga Camacho-Vanegas,Sandra Catalina Camacho,Yiran Guo,Dina J. Zand,Audrey M. Bernstein,Sandra K. Masur,Cecilia E. Kim,Frederick G. Otieno,Cuiping Hou,Nada Abdel-Magid,Ben Tweddale,Denise Metry,Jean-Christophe Fournet,Eniko Papp,Elizabeth W. McPherson,Carrie Zabel,Guy Vaksmann,Cyril Morisot,Brendan Keating,Patrick M. Sleiman,Jeffrey A. Cleveland,David B. Everman,Elaine Zackai,Hakon Hakonarson |
| |
| Affiliation: | 1 Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA;2 Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA;3 Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA;4 The Center for Applied Genomics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;5 Division of Genetics and Metabolism, Children’s National Medical Center, 111 Michigan Avenue, NW Washington, DC 20010, USA;6 Department of Ophthalmology, Mount Sinai School of Medicine, New York, NY 10029, USA;7 Department of Dermatology, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX 77030, USA;8 Hôpital Necker-Enfants-Malades, 149 Rue de Sèvres, 75743 Paris Cedex 15, France;9 Program in Genetics and Genome Biology, Hospital for Sick Children Research Institute, Toronto, ON M5G 1X8, Canada;10 Marshfield Clinic, 1000 North Oak Avenue, Marshfield, WI 54449, USA;11 Department of Pediatric Cardiology, Cardiologic Hospital, 59037 Lille Cedex, France;12 Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;13 Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;14 Carolinas HealthCare System, Matthews, NC 28105, USA;15 Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA;16 Division of Pulmonary Medicine, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA |
| |
| Abstract: | |
| |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
