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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

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第一作者: Rivière,J.-B.
作者单位: Department of Medical Genetics, Toulouse University Hospital, Toulouse III Paul-Sabatier University [1] Signature Genomic Laboratories, PerkinElmer, Spokane, WA, United States [2] Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, WA, United States [3] Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen [4] Department of Pediatrics, Louisiana State University Health Sciences Center, Children's Hospital of [5] Department of Genome Sciences, University of Washington, Seattle, WA, United States [6] Department of Pediatrics, University of Western Ontario, London, ON, Canada [7] Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada [8] Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands [9] Departement Menselijke Erfelijkheid, Center for Human Genetics, University Hospital Leuven, Leuven [10] Département de Génétique, H?pital Robert Debré, Paris, France [11] Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands [12] Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, United States [13] Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom [14] Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH, United States [15] Department of Neurology and Neuroscience, Weill Medical College of Cornell University, New York, NY [16] Division of Medical Genetics, Alfred I. DuPont Hospital for Children, Wilmington, DE, United States [17] Department of Genetics, University Hospital, Rouen, France [18]
发布时间 2013-11-20
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Nature Genetics

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