删除或更新信息,请邮件至freekaoyan#163.com(#换成@)

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)

本站小编 Free考研考试/2022-01-01

Simranpreet Kaur1, 2,
Nicole J. Van Bergen1, 2,
Bruria Ben-Zeev3, 4,
Emanuela Leonardi5, 6,
Tiong Y. Tan7, 8,
David Coman9, 10, 11,
Benjamin Kamien12, 13,
Susan M. White14, 15,
Miya St John16, 17,
Dean Phelan18,
Kristin Rigbye18,
Sze Chern Lim18,
Michelle C. Torres18,
Melanie Marty18,
Elena Savva18,
Teresa Zhao18,
Sean Massey19,
Alessandra Murgia20, 21,
Wendy A. Gold22, 23, 24,
John Christodoulou25, 26, 27, 28
1Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia
2Department of Paediatrics, University of Melbourne, Melbourne, Australia
3Paediatric Neurology Institute, The Edmond and Lily Safra Paediatric Hospital, Sheba Medical Center, Tel HaShomer, Israel
4Sackler School of Medicine, Tel Aviv University, Israel
5Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Italy
6Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy
7Department of Paediatrics, University of Melbourne, Melbourne, Australia
8Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
9Department of Paediatrics, The Wesley Hospital, Brisbane, Brisbane, Australia
10Queensland Children's Hospital, Brisbane, Australia
11School of Medicine, University of Queensland, Brisbane, Australia
12Genetic Services of Western Australia, Western Australia, Australia
13Faculty of Health and Medical Sciences, University of Western Australia, Australia
14Department of Paediatrics, University of Melbourne, Melbourne, Australia
15Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
16Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia
17Department of Audiology and Speech Pathology, University of Melbourne, Parkville, Victoria, Australia
18Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
19Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia
20Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Italy
21Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy
22The University of Sydney, School of Medical Sciences and Discipline of Child and Adolescent Health, Faculty of Medicine and Health, Sydney, Australia
23Molecular Neurobiology Lab, Kids Research, Westmead Children's Hospital, Westmead, Sydney, Australia
24Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, Sydney, Australia
25Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia
26Department of Paediatrics, University of Melbourne, Melbourne, Australia
27Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
28The University of Sydney, School of Medical Sciences and Discipline of Child and Adolescent Health, Faculty of Medicine and Health, Sydney, Australia

More InformationCorresponding author: E-mail address: john.christodoulou@mcri.edu.au (John Christodoulou)
Publish Date:2020-10-25




Abstract



PDF全文下载地址:

http://www.jgenetgenomics.org/article/exportPdf?id=2e4ca818-59c5-4115-ae88-04b5ba0ffa80&language=en
相关话题/Expanding genetic landscape