首页 | 本学科首页   官方微博 | 高级检索  
     


Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
Authors:John C. K. Barber  Jill A. Rosenfeld  John M. Graham  Nancy Kramer  Katherine L. Lachlan  Mark S. Bateman  Morag N. Collinson  Barbro Fossøy Stadheim  Claire L. S. Turner  Jacqueline N. Gauthier  Tyler E. Reimschisel  Athar M. Qureshi  Tabib A. Dabir  Mervyn W. Humphreys  Michael Marble  Taosheng Huang  Sarah J. Beal  Joanne Massiah  Emma‐Jane Taylor  Sarah L. Wynn
Affiliation:1. Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK;2. Signature Genomic Laboratories, PerkinElmer Inc., Spokane, Washington;3. Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California;4. Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK;5. Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK;6. Department of Medical Genetics, Rikshospitalet, Oslo University Hospital, Oslo, Norway;7. Department of Clinical Genetics, Royal Devon and Exeter Hospital (Heavitree), Exeter, UK;8. Division of Developmental Medicine and the Centre for Child Development, Vanderbilt University Medical Center, Nashville, Tennessee;9. Center for Pediatric and Congenital Heart Disease, The Cleveland Clinic, Cleveland, Ohio;10. Medical Genetics Department, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, Northern Ireland;11. Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, Northern Ireland;12. Children's Hospital of New Orleans, New Orleans, Louisiana;13. School of Medicine, University of California, Irvine, California;14. Unique, Caterham, UK
Abstract:
Keywords:microduplication  8p23.1  clinical significance  candidate genes  SOX7  GATA4  variable penetrance  DNA array
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