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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

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第一作者: VanHoudt,J.K.J.
作者单位: Department of Electrical Engineering (ESAT), Catholic University Leuven, Leuven, Belgium [1] Institut für Humangenetik, Universit?tsklinikum, Essen, Germany [2] Department of Pediatrics, University of Kentucky, Lexington, KY, United States [3] Service de Génétique Médicale, Laboratoire Maladies Rares-Génétique et Métabolisme (EA 4576), [4] Division of Medical Genetics, Department of Biomedicine, University Children's Hospital, Basel [5] Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, United Kingdom [6] North West Thames Regional Genetics Service, Kennedy-Galton Center, London, United Kingdom [7] Department of Obstetric and Pediatric, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), [8] Institute of Human Genetics, Universitaet Zu Luebeck, Luebeck, Germany [9] Medical Genetics, University of Pavia, Pavia, Italy [10] Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada [11] Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands [12] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands [13] Department of Clinical Genetics, Center of Human Genetics, 5Université Libre de Bruxelles, Brussels [14] Laboratory of Molecular Biology (Celgen), Center for Human Genetics, Catholic University Leuven [15] Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States [16] Département de Génétique, Université Paris Descartes, Hopital Necker-Enfants Malades, Paris, France [17] Bioinformatics Laboratory, Department of Clinical Epidemiology, Biostatistics and Bioinformatics [18] Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, United Kingdom [19] Center for Human Genetics, Catholic University Leuven, University Hospital Gasthuisberg, Leuven [20] Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland [21] IRCCS, Neurological Institute C. Mondino, University of Pavia, Pavia, Italy [22] Institut für Medizinische Genetik, Humboldt-Universit?t, Berlin, Germany [23] Clinical and Molecular Genetics Unit, Institute of Child Health, London, United Kingdom, Servi?o de [24] Department of Genetic and Laboratory Medicine, Geneva University Hospitals, Geneva, Switzerland [25] Department of Pediatrics, Amphia Hospital, Breda, Netherlands, Department of Clinical Genetics [26] Clinical Genetics Service, City Hospital, Nottingham, United Kingdom [27] Department of Molecular Microbiology, Flanders Institute for Biotechnology, Leuven, Belgium [28] Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen [29] Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center [30] Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy [31] Department of Clinical Genetics, Alder Hey Children's Hospital, Liverpool, Liverpool Women's [32] Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland [33] Department of Child Neurology, Medical University of Silesia, Katowice, Poland [34]
发布时间 2013-11-20
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Nature Genetics

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