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Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects.

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第一作者： Emma K,Baker

第一单位： Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Parkville, 3052, Australia; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, 3052, Australia; School of Psychology and Public Health, La Trobe University, Melbourne, 3083, Australia.

作者： Emma K,Baker ^[1] ; Catherine F,Merton ^[2] ; Wen-Hann,Tan ^[2] ; Tracy,Dudding-Byth ^[3] ; David E,Godler ^[4] ; Anjali,Sadhwani ^[5]

作者单位： Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Parkville, 3052, Australia; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, 3052, Australia; School of Psychology and Public Health, La Trobe University, Melbourne, 3083, Australia. ^[1] Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. ^[2] The University of Newcastle, Newcastle, NSW, Australia. ^[3] Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Parkville, 3052, Australia; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, 3052, Australia. Electronic address: david.godler@mcri.edu.au. ^[4] Department of Psychiatry, Boston Children's Hospital, Boston, MA, USA. Electronic address: Anjali.Sadhwani@childrens.harvard.edu. ^[5]

关键词 Atypical Angelman syndrome Developmental disabilities Imprinting defect Intellectual disabilities Mosaicism