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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
Institution:1. Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands;2. Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany;3. Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany;4. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands;5. University Children’s Hospital, University Hospital Muenster, Münster, Germany;6. Institute for Human Genetics, University Hospital Muenster, Muenster, Germany;7. Leeds Institute of Medical Research, University of Leeds, Leeds, United Kingdom;8. Department of Paediatric Neurology and Developmental Medicine, Hauner Children''s Hospital, Ludwig Maximilian University of Munich, Munich, Germany;9. Institute of Neuropathology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany;10. Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands;11. Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany;12. Department of Diagnostic and Interventional Radiology, University Hospital, Düsseldorf, Germany;13. Department of Paediatrics, Maastricht University Medical Center, Maastricht, The Netherlands
Abstract:
Keywords:Cardiomyopathy  Cortical malformation  Heart  Lysosome  Mitochondrial  mTORopathy
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