首页 | 本学科首页   官方微博 | 高级检索  
     


Partially methylated alleles,microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report
Authors:Yun Tae Hwang  Solange Mabel Aliaga  Marta Arpone  David Francis  Xin Li  Belinda Chong  Howard Robert Slater  Carolyn Rogers  Lesley Bretherton  Matthew Hunter  Robert Heard  David Eugeny Godler
Affiliation:1. Department of Neurology, Gosford Hospital, Gosford, New South Wales, Australia;2. Institute of Neurology, University College London, London, United Kingdom;3. Correspondence to:;4. Yun Tae Hwang, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.E‐mail:;5. Cyto‐Molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia;6. Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Victoria, Australia;7. Molecular and Cytogenetics Laboratory, INTA University of Chile, Santiago, Chile;8. Molecular Genetics Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal children's Hospital, Melbourne, Victoria, Australia;9. Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia;10. Department of Psychology, Royal Children's Hospital, Melbourne, Victoria, Australia;11. Melbourne School of Psychological Sciences, University of Melbourne, Parkville, Melbourne, Australia;12. Child Neuropsychology, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia;13. Faculty of Medicine, University of Newcastle, Newcastle, New South Wales, Australia;14. Westmead Millennium Institute, University of Sydney, Westmead, New South Wales, Australia
Abstract:
Keywords:Fragile X syndrome  fragile X related tremor/ataxia syndrome  tremor  cerebellar ataxia  mental retardation  molecular biology  methylation  mosaicism
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