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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
Authors:Georgia Vasileiou  Silvia Vergarajauregui  Sabine Endele  Bernt Popp  Christian Büttner  Arif B Ekici  Marion Gerard  Nuria C Bramswig  Beate Albrecht  Jill Clayton-Smith  Jenny Morton  Susan Tomkins  Karen Low  Astrid Weber  Maren Wenzel  Janine Altmüller  Yun Li  Bernd Wollnik  André Reis
Institution:1. Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany;2. Experimental Renal and Cardiovascular Research, Institute of Pathology, Department of Nephropathology, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany;3. Génétique Clinique, Centre Hospitalier Universitaire de Caen, Caen 14000, France;4. Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany;5. Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK;6. West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s Hospital NHS Foundation Trust, Birmingham B15 2TG, UK;7. Clinical Genetics Service, University Hospitals of Bristol NHS Foundation Trust, Bristol BS2 8HW, UK;8. Merseyside and Cheshire Clinical Genetics Service, Liverpool Women’s NHS Foundation Hospital Trust, Liverpool L8 7SS, UK;9. Genetikum Neu-Ulm, 89231 Neu-Ulm, Germany;10. Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany;11. Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany;12. Pediatric Genetics, University of Illinois Hospital, Chicago, IL 60612, USA;13. GeneDx, Gaithersburg, MD 20877, USA;14. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK;15. Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität, 40225 Düsseldorf, Germany;16. Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany;17. Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK
Abstract:
Keywords:Coffin-Siris syndrome  BAF complex  DPF2  PHD finger  intellectual disability  autism spectrum disorder  histone modification  nuclear aggregates  dominant negative  nail hypoplasia
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