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Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

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作者单位: 1] Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK. [2] Cancer Genetics Unit, Royal Marsden Hospital, London, UK. [3] Medical Genetics, St George's University of London, London, UK. [1] Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK. [2] Cancer Research UK Cancer Therapeutics Unit, Division of Cancer Therapeutics, Institute of Cancer Research, London, UK. [3] Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark. [4] Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK. [5] Northern Ireland Regional Genetics Centre, Clinical Genetics Service, Belfast City Hospital, Belfast, UK. [6] Servicio de Genética, BioCruces Health Research Institute, Hospital Universitario Cruces, Bizkaia, Spain. [7] Department of Human Genetics, Ninewells Hospital and Medical School, Dundee, UK. [8] Medical Genetics, St George's University of London, London, UK. [9] North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK. [10] Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK. [11] Ambulatorio di Genetica Clinica Pediatrica, Clinica Pediatrica dell'Università di Milano Bicocca, La Fondazione Monza e Brianza il Bambino e La Sua Mamma (MBBM), Azienda Ospedaliera (AO), San Gerado, Monza, Italy. [12] Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France. [13] Clinical Genetics Services, New York University Hospitals Center, New York University, New York, New York, USA. [14] 1] Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK. [2] Cancer Genetics Unit, Royal Marsden Hospital, London, UK. [15]
DOI 10.1038/ng.2917
PMID 24614070
发布时间 2024-06-10
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