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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders
Affiliation:1. Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands;2. Functional Cancer Genomics, Institute of Oncology Research, 6500 Bellinzona, Switzerland;3. Faculty of Biomedical Science, Università della Svizzera Italiana, 6900 Lugano, Switzerland;4. University of Lausanne, 1015 Lausanne, Switzerland;5. Department of Genetics, Children''s Hospital of Eastern Ontario and Children''s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada;6. Molecular Diagnostic Laboratory, Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA;7. Department of Clinical Genetics, Sheffield Children''s NHS Foundation Trust, Sheffield S10 2TH, UK;8. Department of Genetics, UMC Utrecht, 3584 CX Utrecht, the Netherlands;9. Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada;10. University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA;11. Special Care Clinic, Children''s Hospital Colorado, Aurora, CO 80011, USA;12. University of Colorado School of Medicine, Aurora, CO 80045, USA;13. GeneDx, Gaithersburg, MD 20877, USA;14. Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands;15. Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands
Abstract:
Keywords:SPOP  neurodevelopmental disorder  germ line mutation  BET protein  missense mutation  craniofacial dysmorphisms  microcephaly  macrocephaly  intellectual disabilty syndrome
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