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Clinical delineation of the PACS1‐related syndrome—Report on 19 patients
Authors:Janneke H M Schuurs‐Hoeijmakers  Megan L Landsverk  Nicola Foulds  Mary K Kukolich  Ralitza H Gavrilova  Stephanie Greville‐Heygate  Andrea Hanson‐Kahn  Jonathan A Bernstein  Jennifer Glass  David Chitayat  Thomas A Burrow  Ammar Husami  Kathleen Collins  Katie Wusik  Nathalie van der Aa  Frank Kooy  Kate Tatton Brown  Dorothea Gadzicki  Usha Kini  Sara Alvarez  Alberto Fernández‐Jaén  Frank McGehee  Katherine Selby  Maja Tarailo‐Graovac  Margot Van Allen  Clara D M van Karnebeek  Dimitri J Stavropoulos  Christian R Marshall  Daniele Merico  Anne Gregor  Christiane Zweier  Robert J Hopkin  Yoyo Wing‐Yiu Chu  Brian Hon‐Yin Chung  Bert B A de Vries  Koenraad Devriendt  Matthew E Hurles  Han G Brunner  DDD study
Institution:1. Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands;2. Correspondence to:;3. Janneke H.M. Schuurs‐Hoeijmakers, Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.;4. E‐mail:;5. Department of Pediatrics, Sanford School of Medicine, University of South Dakota, and Sanford Children's Health Research Center, Sanford Research, Sioux Falls, South Dakota;6. Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom;7. Faculty of Medicine, University of Southampton, Southampton, United Kingdom;8. Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas;9. Department of Neurology, Mayo Clinic, Rochester, Minnesota;10. Medical Genetics, Mayo Clinic, Rochester, Minnesota;11. Department of Genetics, Stanford University School of Medicine, Stanford, California;12. Department of Pediatrics, Stanford University School of Medicine, Stanford, California;13. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio;14. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada;15. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;16. Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio;17. Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium;18. Southwest Thames Regional Genetics Centre, St George's Healthcare NHS Trust, London, United Kingdom;19. MVZ Endokrinologikum Hannover, Hannover, Germany;20. Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, United Kingdom;21. NIMgenetics, Madrid, Spain;22. School of Medicine, European University of Madrid, Spain;23. Neuropediatric Department, “Quiron” University Hospital, Spain;24. Consultant, Cook Children's Physician Network;25. Child & family Research Institute, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada;26. Division of Pediatric Neurology, Department of Pediatrics, B.C. Children's & Women's Hospital, Vancouver, British Columbia, Canada;27. Centre for Molecular Medicine and Therapeutics (TIDE‐BC), Department of Pediatrics and Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada;28. Child and family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada;29. Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto, Ontario, Canada;30. The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada;31. Institute of Human Genetics, Friedrich‐Alexander‐Universität Erlangen‐Nürnberg, Erlangen, Germany;32. Department of Paediatrics & Adolescent Medicine, Centre for Genomic Sciences, LKS Faculty of Medicine, the University of Hong Kong, Hong Kong;33. Centre for Human Genetics, KU Leuven, Leuven, Belgium;34. Human Genetics, Wellcome Trust Sanger Institute, Cambridge, United Kingdom
Abstract:
Keywords:PACS1  intellectual disability  syndrome  recurrent mutation  mutation hotspot  clinical features  case series
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