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De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
Affiliation:1. Neuroscience Research Australia, Sydney, New South Wales, Australia;2. Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia;3. Division of Genetics and Genomics, Boston Children?s Hospital, Harvard Medical School, Boston, MA;4. Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands;5. School of Health and Behavioural Sciences, University of the Sunshine Coast, Maroochydore, Queensland, Australia;6. Sunshine Coast Health Institute, Birtinya, Queensland, Australia;7. Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia;8. New South Wales Health Pathology, Randwick Genomics Laboratory, Prince of Wales Hospital, Sydney, New South Wales, Australia;9. Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT;10. Molecular Genomics, ARUP Laboratories, University of Utah School of Medicine, University of Utah, Salt Lake City, UT;11. Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA;12. Department of Clinical Genetics, Children''s Hospital Westmead, Sydney Children''s Hospitals Network, Sydney, New South Wales, Australia;13. Specialty of Genomic Medicine, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia;14. Department of Clinical Genetics, Temple Street Children''s University Hospital, Dublin, Ireland;15. Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom;16. Rady Children’s Institute of Genomic Medicine, Rady Children’s Hospital, San Diego, CA;17. Departments of Neurosciences and Pediatrics, University of California San Diego, San Diego, CA;18. Department of Pediatrics, Clinical Genetic Services, NYU Grossman School of Medicine, NYU Langone Health, New York, NY;19. The Feingold Center for Children, Boston Children?s Hospital, Harvard Medical School, Boston, MA;20. Department of Medical & Molecular Genetics, Indiana University School of Medicine, Riley Hospital for Children at Indiana University Health, Indianapolis, IN;21. GeneDx, Gaithersburg, MD;22. School of Women''s and Children''s Health, University of New South Wales, Sydney, New South Wales, Australia;23. Centre for Clinical Genetics, Sydney Children''s Hospital, Sydney, New South Wales, Australia;24. Hunter Genetics, Hunter New England Health, New Lambton, New South Wales, Australia;25. School of Medicine, Western Sydney University, Penrith, New South Wales, Australia;26. U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy;27. Medical Genetics Department, Seattle Children?s Hospital, Seattle, WA;28. Center for Pediatric Neurological Disease Research, St. Jude Research, St. Jude Children’s Hospital, Memphis, TN;29. Department of Neurosurgery, Okinawa Pref. Nanbu Medical Center and Children?s Medical Center, Okinawa, Japan;30. Okinawa Central Hospital, Okinawa, Japan;31. Department of Neurodevelopmental Disorder Genetics, Institute of Brain Sciences, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan;32. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX;33. Institute of Human Genetics, Heidelberg University, Heidelberg University Hospital, Heidelberg, Germany;34. School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia;35. Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, UT
Abstract:
Keywords:Developmental delay  Intellectual disability  Protein hub  Zinc finger MYND domain-containing protein 8
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