首页 | 本学科首页   官方微博 | 高级检索  
     


Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants,a gene implicated in the leukemia-related JAK-STAT pathway
Affiliation:1. Centre de référence « Déficiences intellectuelles de causes rares », Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Hôpital d’Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France;2. Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Hôpital d’Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France;3. UF Innovation en diagnostic génomique des maladies rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), Centre Hospitalier Universitaire de Dijon, Dijon, France;4. UMR-Inserm 1231 GAD team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, F-21000, Dijon, France;5. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA;6. Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA;7. Department of Health Sciences Research, Mayo Clinic, Mayo Clinic, Rochester, MN, 55905, USA;8. Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA;9. Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands;10. Assistance Publique-Hôpitaux de Paris, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France;11. Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, 21205, USA;12. Department of Medical Genetics, Mayo Clinic, Rochester, MN, 55905, USA;13. University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands;14. Department of Clinical Genetics, Odense University Hospital, Denmark;15. H.C. Andersen Children Hospital, Odense University Hospital, Denmark;p. Division of Medical Genetics, McGill University Health Centre, Montreal, Canada;q. Department of Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands;r. Human Genetics, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark;s. Greenwood Genetic Center, Greenwood, SC, 29646, USA;1. Department of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan;2. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;3. Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;1. Département de Génétique, CHU Robert Debré, Université de Paris Cité, Paris, France;2. Service de Rhumatologie, Hôpital Pierre-Paul Riquet, Toulouse, France;3. Service de Génétique Médicale, CHU de Nantes, Nantes, France;4. Inserm1132, CHU Lariboisière, Paris, France;5. Service de Dermatologie, CHU Saint-Louis, Université de Paris Cité, Paris, France;6. Service de Dermatologie, CHU Strasbourg, Strasbourg, France;7. Service de Médecine Interne, Centre Hospitalier Princesse Grâce, Monaco;8. Service de Rhumatologie, Hôpital Cochin, Université de Paris Cité, Paris, France;9. Service de Dermatologie, CHU de Nice, Nice, France;10. Service de Médecine Générale, GH Est Francilien, site Coulommiers, Coulommiers, France;11. Service de Cytogénétique, GH de l''Institut Catholique de Lille, Hopital Saint Vincent de Paul, Lille, France;12. Service de Rhumatologie, CHU Lariboisière, Université de Paris Cité, Paris, France;1. Department of Pediatric Hematology and Oncology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France;2. Laboratory of Normal and Pathological Lymphoid Differentiation, Institut Necker Enfants Malades (INEM), INERM UMR1151, Paris, France;3. Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR1163, Imagine Institute, Paris, France;4. Université de Paris, Paris, France;5. Department of Hematology, Center Henri Becquerel, University of Rouen, INSERM UMR1245, Rouen, France;6. Department of Pediatric Hematology, AP-HP, Robert Debré Hospital, University Paris Diderot, Paris, France;1. Department of Neonatology, Anhui Provincial Children''s Hospital/Children''s Hospital Affiliated to Anhui Medical University, Hefei, China;2. Department of Radiology, Anhui Provincial Children''s Hospital, Hefei, China;3. School of Basic Medical Sciences, Anhui Medical University, Hefei, China;4. School of Life Sciences, University of Science and Technology of China, Hefei, China;5. Department of Radiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China;1. Department of Cardiology, Mater Dei Hospital, VASCERN HTAD Affiliated Partner Centre, Malta;2. Department of Cardiology, Academic Medical Centre, Amsterdam, VASCERN HTAD European Reference Centre, the Netherlands;3. Department of Cardiovascular Genetics and Laboratory of Forensic Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, VASCERN HTAD Affiliated Partner Centre, Cyprus;4. Semmelweis University Heart and Vascular Centre, Budapest, VASCERN HTAD European Reference Centre, Hungary;5. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, VASCERN HTAD European Reference Centre, Sweden;6. Centre Hospitalier de Luxembourg, VASCERN HTAD Affiliated Partner Centre, Luxembourg;7. Marfan Hilfe, VASCERN HTAD European Patient Advocacy Group, Spain;8. Department of Cardiac Surgery, Medical University Innsbruck, Innsbruck, Austria, VASCERN HTAD Affiliated Partner Centre;9. Hospital Universitari Vall d’Hebron, Barcelona, VASCERN HTAD European Reference Centre, Spain;10. Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, VASCERN HTAD European Reference Centre, the Netherlands;11. Center of Medical Genetics, University Hospital of Antwerp, Antwerp, VASCERN HTAD European Reference Centre, Belgium;12. Center for Medical Genetics, Ghent University Hospital, Ghent, VASCERN HTAD European Reference Centre, Belgium;13. Karolinska University Hospital, Theme Heart and Vessels, Division of Valvular and Adult Congenital Heart Disease, SE-171 76, Stockholm, Sweden;14. Centre de référence pour le syndrome de Marfan et apparentés, Department of Cardiology, AP-HP, Université Paris Cité, Hôpital Bichat-Claude Bernard, Paris, VASCERN HTAD European Reference Centre, France;15. Regional Tuscany Reference Center for Marfan Syndrome and Related Disorders, Careggi Hospital, University of Florence, Florence, VASCERN HTAD European Reference Centre, Italy;p. Department of Clinical Genetics and Cardiology, Erasmus Medical Center, Rotterdam, VASCERN HTAD European Reference Centre, Spain;q. University Hospital Hamburg-Eppendorf University Heart Centre, Hamburg, VASCERN HTAD European Reference Centre, Germany
Abstract:
Keywords:BRWD3  Intellectual disability  Macrocephaly  Obesity
本文献已被 ScienceDirect 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号