首页 | 本学科首页   官方微博 | 高级检索  
检索        


Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature
Authors:Anna Le Fevre  Jasmin Beygo  Cheryl Silveira  Benjamin Kamien  Jill Clayton‐Smith  Alison Colley  Karin Buiting  Tracy Dudding‐Byth
Institution:1. Hunter Genetics, Newcastle, Australia;2. Institut für Humangenetik, Universit?tsklinikum Essen, Universit?t Duisburg‐Essen, Germany;3. Westmead Hospital, Westmead, Australia;4. Genetic Medicine, Manchester Academic Health Sciences Centre, St. Mary's Hospital, Manchester, United Kingdom;5. Clinical Genetics Services, South West Sydney Local Health District, Liverpool, Australia;6. Hunter Genetics, Genetics of Learning Disability (GOLD) Service, Newcastle, Australia;7. Grow Up Well Priority Research Centre, The University of Newcastle, Newcastle, Australia;8. Correspondence to:;9. Tracy Dudding‐Byth, Hunter Genetics, Cnr Turton and Tinonee Rds, Waratah, NSW 2298, Australia.;10. E‐mail:
Abstract:
Keywords:Angelman syndrome  mosaic Angelman  atypical Angelman  imprinting center defect  hyperphagia
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