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MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.

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作者单位: Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. [1] Department of Neurology, Great Ormond Street Hospital, London, United Kingdom. [2] Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada. [3] Cell Therapy and Cell Engineering Facility, Memorial Sloan Kettering Cancer Center, New York, New York, USA. [4] Department of Chemistry and Biological Science, College of Science and Engineering, Aoyama Gakuin University, Sagamihara, Japan. [5] School of Medical Sciences, University of Sydney, Sydney, New South Wales, Australia. [6] Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland. [7] School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland. [8] Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, United Kingdom. [9] Institute of Structural and Molecular Biology, Crystallography/Department of Biological Sciences, Birkbeck College, University of London, London, United Kingdom. [10] CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain. [11] Leibniz Institute for Virology (HPI) and Universitätsklinikum Hamburg Eppendorf (UKE), Centre for Structural Systems Biology (CSSB), Hamburg, Germany. [12] Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom. [13] Centre for Trials Research, Neuadd Meirionnydd, Cardiff University, Cardiff, United Kingdom. [14] Wellcome Trust Sanger Institute, Cambridge, United Kingdom. [15] Department of Neurology, John Radcliffe Hospital, Oxford, United Kingdom. [16] Department of Neurology, Queen Elizabeth Hospital, Birmingham, United Kingdom. [17] Clinical Genetic Service, Gloucester Royal Hospital, Gloucester, United Kingdom. [18] Department of Paediatrics, Cheltenham General Hospital, Gloucestershire, United Kingdom. [19] Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands. [20] Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany. [21] Department of Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, USA. [22] Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom. [23] Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom. [24] Department of Radiology, Great Ormond Street Hospital, London, United Kingdom. [25] Developmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. [26] Department of Psychiatry, New York University School of Medicine, New York, New York, USA. [27] School of Health and Behavioural Sciences, University of the Sunshine Coast, Sippy Downs, Queensland, Australia. [28] Sunshine Coast Health Institute, Birtinya, Queensland, Australia. [29]
DOI 10.1002/mds.29147
PMID 35876425
发布时间 2023-02-23
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Movement disorders : official journal of the Movement Disorder Society

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