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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD,Craniosynostosis, and Osteochondromas
Affiliation:1. Department of Surgery, Division of Orthopaedic Surgery, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;2. Department of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, USA;3. Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA;4. Division of Medical Genetics, Children’s Hospital Los Angeles, Los Angeles, CA 90027, USA;5. Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA;6. Department of Clinical Genetics, Leiden University Medical Centre, 2300 LC Leiden, the Netherlands;7. Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada;8. Institute of Medical Sciences, University of Toronto, Toronto, ON M5G 1X8, Canada;9. Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany;10. Institute für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität, 40225 Düsseldorf, Germany;11. Neurovascular Unit and Cognitive Disorders (EA-3808 NEUVACOD), Université de Poitiers, 86073 Poitiers, France;12. Service de Génétique Clinique, Centre Hospitalier Universitaire de Poitiers, 86021 Poitiers, France;13. Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013 Paris, France;14. Service de Génétique, Centre Hospitalier Universitaire de Nice Hôpital de l’Archet 2,151 route Saint Antoine de la Ginestière, 062002 Nice, France;15. Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium;16. Laboratory for Molecular Diagnosis, Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium;17. University of Pittsburgh Medical Center, Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA;18. Roberts Individualized Medical Genetics Center, Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;19. Division of Genomic Diagnostics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;20. MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK;21. Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham NG5 1PB, UK;22. Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK;23. GeneDx, Gaithersburg, MD 20877, USA;24. Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27707, USA;25. Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, 38700 La Tronche, France;26. INSERM 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Université Grenoble Alpes, 38706 Grenoble, France;27. Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children’s Hospital Colorado, Aurora, CO 80045, USA;28. Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia;29. Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France;30. Université de Nantes, CNRS, INSERM, L’Institut du Thorax, 44000 Nantes, France;31. Service de Cytogénétique, Centre Hospitalier Universitaire de Le Mans, 72037 Le Mans, France;32. Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France
Abstract:
Keywords:SOX6  developmental delay  intellectual disability  osteochondroma  craniosynostosis  ADHD  SOXopathy  genetic variant  human disease  dysmorphism
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