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

Simranpreet Kaur; Nicole J. Van Bergen; Bruria Ben-Zeev; Emanuela Leonardi; Tiong Y. Tan; David Coman; Benjamin Kamien; Susan M. White; Miya St John; Dean Phelan; Kristin Rigbye; Sze Chern Lim; Michelle C. Torres; Melanie Marty; Elena Savva; Teresa Zhao; Sean Massey; Alessandra Murgia; Wendy A. Gold; John Christodoulou

doi:10.1016/j.jgg.2020.09.003

Volume 47 Issue 10

Oct. 2020

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Article Navigation > Journal of Genetics and Genomics > 2020 > 47(10): 650-654

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

doi: 10.1016/j.jgg.2020.09.003

Simranpreet Kaur^{1, 2},
Nicole J. Van Bergen^{1, 2},
Bruria Ben-Zeev^{3, 4},
Emanuela Leonardi^{5, 6},
Tiong Y. Tan^{7, 8},
David Coman^{9, 10, 11},
Benjamin Kamien^{12, 13},
Susan M. White^{14, 15},
Miya St John^{16, 17},
Dean Phelan¹⁸,
Kristin Rigbye¹⁸,
Sze Chern Lim¹⁸,
Michelle C. Torres¹⁸,
Melanie Marty¹⁸,
Elena Savva¹⁸,
Teresa Zhao¹⁸,
Sean Massey¹⁹,
Alessandra Murgia^{20, 21},
Wendy A. Gold^{22, 23, 24},
John Christodoulou^{25, 26, 27, 28}

1
Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia
2
Department of Paediatrics, University of Melbourne, Melbourne, Australia
3
Paediatric Neurology Institute, The Edmond and Lily Safra Paediatric Hospital, Sheba Medical Center, Tel HaShomer, Israel
4
Sackler School of Medicine, Tel Aviv University, Israel
5
Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Italy
6
Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy
7
Department of Paediatrics, University of Melbourne, Melbourne, Australia
8
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
9
Department of Paediatrics, The Wesley Hospital, Brisbane, Brisbane, Australia
10
Queensland Children's Hospital, Brisbane, Australia
11
School of Medicine, University of Queensland, Brisbane, Australia
12
Genetic Services of Western Australia, Western Australia, Australia
13
Faculty of Health and Medical Sciences, University of Western Australia, Australia
14
Department of Paediatrics, University of Melbourne, Melbourne, Australia
15
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
16
Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia
17
Department of Audiology and Speech Pathology, University of Melbourne, Parkville, Victoria, Australia
18
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
19
Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia
20
Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Italy
21
Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy
22
The University of Sydney, School of Medical Sciences and Discipline of Child and Adolescent Health, Faculty of Medicine and Health, Sydney, Australia
23
Molecular Neurobiology Lab, Kids Research, Westmead Children's Hospital, Westmead, Sydney, Australia
24
Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, Sydney, Australia
25
Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia
26
Department of Paediatrics, University of Melbourne, Melbourne, Australia
27
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
28
The University of Sydney, School of Medical Sciences and Discipline of Child and Adolescent Health, Faculty of Medicine and Health, Sydney, Australia

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

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References(20)

References

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