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Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).
Kaur, Simranpreet; Van Bergen, Nicole J; Ben-Zeev, Bruria; Leonardi, Emanuela; Tan, Tiong Y; Coman, David; Kamien, Benjamin; White, Susan M; St John, Miya; Phelan, Dean; Rigbye, Kristin; Lim, Sze Chern; Torres, Michelle C; Marty, Melanie; Savva, Elena; Zhao, Teresa; Massey, Sean; Murgia, Alessandra; Gold, Wendy A; Christodoulou, John.
Afiliación
  • Kaur S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Van Bergen NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Ben-Zeev B; Paediatric Neurology Institute, The Edmond and Lily Safra Paediatric Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler School of Medicine, Tel Aviv University, Israel.
  • Leonardi E; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Italy; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy.
  • Tan TY; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Coman D; Department of Paediatrics, The Wesley Hospital, Brisbane, Brisbane, Australia; Queensland Children's Hospital, Brisbane, Australia; School of Medicine, University of Queensland, Brisbane, Australia.
  • Kamien B; Genetic Services of Western Australia, Western Australia, Australia; Faculty of Health and Medical Sciences, University of Western Australia, Australia.
  • White SM; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • St John M; Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Audiology and Speech Pathology, University of Melbourne, Parkville, Victoria, Australia.
  • Phelan D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Rigbye K; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Lim SC; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Torres MC; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Marty M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Zhao T; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Massey S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.
  • Murgia A; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Italy; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy.
  • Gold WA; The University of Sydney, School of Medical Sciences and Discipline of Child and Adolescent Health, Faculty of Medicine and Health, Sydney, Australia; Molecular Neurobiology Lab, Kids Research, Westmead Children's Hospital, Westmead, Sydney, Australia; Kids Neuroscience Centre, Kids Research, Childr
  • Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; The University of Sydney,
J Genet Genomics ; 47(10): 650-654, 2020 10 20.
Article en En | MEDLINE | ID: mdl-33386251
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Rett / Predisposición Genética a la Enfermedad / Histona Acetiltransferasas / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Idioma: En Revista: J Genet Genomics Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Rett / Predisposición Genética a la Enfermedad / Histona Acetiltransferasas / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Idioma: En Revista: J Genet Genomics Año: 2020 Tipo del documento: Article