Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Autor: Acuna-Hidalgo R; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Deriziotis P; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Steehouwer M; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Graham SA; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., van Dam S; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Hoover-Fong J; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America., Telegrafi AB; GeneDx, Gaithersburg, Maryland, United States of America., Destree A; Institute of Pathology and Genetics (IPG), Gosselies, Belgium., Smigiel R; Department of Pediatrics and Rare Disorders, Medical University, Wroclaw, Poland., Lambie LA; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSOM), İstanbul, Turkey., Altunoglu U; Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, İstanbul, Turkey., Lapi E; Medical Genetics Unit, Anna Meyer Children's University Hospital, Florence, Italy., Uzielli ML; University of Florence, Genetic Science, Firenze, Italy., Aracena M; División de Pediatría, Pontificia Universidad Católica de Chile and Unidad de Genética, Hospital Dr. Luis Calvo Mackenna, Santiago Chile., Nur BG; Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey., Mihci E; Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey., Moreira LM; Laboratory of Human Genetics, Biology Institute, Federal University of Bahia (UFBA), Bahia, Brazil., Borges Ferreira V; Hospital Santa Izabel, Salvador-Bahia, Brazil., Horovitz DD; CERES-Genetica Reference Center and Studies in Medical Genetics and Instituto Fernandes Figueira / Fiocruz, Rio de Janeiro, Brazil., da Rocha KM; Center for Human Genome Studies, Institute of Biosciences, USP, Sao Paulo, Brazil., Jezela-Stanek A; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Brooks AS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands., Reutter H; Institute of Human Genetics, University of Bonn, Bonn, Germany and Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany., Cohen JS; Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, United States of America., Fatemi A; Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, United States of America., Smitka M; Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany., Grebe TA; Division of Genetics & Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, United States of America., Di Donato N; Institute for Clinical Genetics, TU Dresden, Dresden, Germany., Deshpande C; Department of Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom., Vandersteen A; North West Thames Regional Genetics Unit, Kennedy Galton Centre, North West London Hospitals NHS Trust, Northwick Park & St Marks Hospital, Harrow, Middlesex, United Kingdom., Marques Lourenço C; Neurogenetics Unit, Department of Medical Genetics School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Rossier E; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Andre G; Unité de foetopathologie, Hôpital Pellegrin, Place Amélie Raba Léon, Bordeaux, France., Baumer A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Spencer C; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., McGaughran J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland and School of Medicine, The University of Queensland, Brisbane, Queensland, Australia., Franke L; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Veltman JA; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom., De Vries BB; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Schinzel A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands., van Bon BW; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: PLoS genetics [PLoS Genet] 2017 Mar 27; Vol. 13 (3), pp. e1006683. Date of Electronic Publication: 2017 Mar 27 (Print Publication: 2017).