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Jaffe-Campanacci syndrome, revisited: Detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

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第一作者: Stewart,D.R.
作者: Stewart,D.R. [1] ; Brems,H. [2] ; Gomes,A.G. [3] ; Ruppert,S.L. [4] ; Callens,T. [5] ; Williams,J. [6] ; Claes,K. [7] ; Bober,M.B. [8] ; Hachen,R. [9] ; Kaban,L.B. [10] ; Li,H. [11] ; Lin,A. [12] ; McDonald,M. [13] ; Melancon,S. [14] ; Ortenberg,J. [15] ; Radtke,H.B. [16] ; Samson,I. [17] ; Saul,R.A. [18] ; Shen,J. [19] ; Siqveland,E. [20] ; Toler,T.L. ; VanMaarle,M. ; Wallace,M. ; Williams,M. ; Legius,E. ; Messiaen,L.
作者单位: Department of Molecular Genetics and Microbiology, University of Florida College of Medicine [1] Department of Clinical Genetics, Academic Medical Centre, Amsterdam, Netherlands [2] Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of [3] Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute [4] Genetics Unit, Mass General Hospital for Children, Boston, MA, United States [5] Greenwood Genetic Center, Greenwood, SC, United States [6] Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium [7] Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States [8] Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre [9] Department of Orthopedic Surgery, University Hospitals Leuven, Leuven, Belgium [10] Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Boston, MA, United [11] Children's Hospitals and Clinics of Minnesota, Department of Genetics, Minneapolis, MN, United [12] Division of Medical Genetics, Department of Pediatrics A.I. DuPont Hospital for Children [13] Medical Genomics Laboratory, Department of Genetics, University of Alabama, Birmingham, AL, United [14] Department of Pediatrics, Duke University Medical Center, Durham, NC, United States, Department of [15] Children's Hospital of Wisconsin, Milwaukee, WI, United States [16] Department of Human Genetics, University of Leuven, Leuven, Belgium, Center for Human Genetics [17] Lewis Gale Regional Health System, Department of Clinical Genetics, Salem, VA, United States [18] Medical Genetics/Metabolism, Children's Hospital Central California, Madera, CA, United States [19] Division of Medical Genetics, Massachusetts General Hospital, Boston, MA, United States [20]
发布时间 2014-10-16
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