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Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A(KAT6A)
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Journal of Genetics and Genomics 2020年 第10期47卷 650-654页
作者： 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 Brain and Mitochondrial Research Group Murdoch Children's Research InstituteMelbourneAustralia Department of Paediatrics University of MelbourneMelbourneAustralia Paediatric Neurology Institute The Edmond and Lily Safra Paediatric HospitalSheba Medical CenterTel HaShomerIsrael Sackler School of Medicine Tel Aviv UniversityIsrael Molecular Genetics of Neurodevelopment Department of Woman and Child HealthUniversity of PadovaItaly Fondazione Istituto di Ricerca Pediatrica(IRP) Citta della SperanzaPadovaItaly Victorian Clinical Genetics Services Murdoch Children's Research InstituteMelbourneAustralia Department of Paediatrics The Wesley HospitalBrisbaneBrisbaneAustralia Queensland Children's Hospital BrisbaneAustralia School of Medicine University of QueenslandBrisbaneAustralia Genetic Services of Western Australia Western AustraliaAustralia Faculty of Health and Medical Sciences University of Western AustraliaAustralia Speech and Language Murdoch Children's Research InstituteParkvilleVictoriaAustralia Department of Audiology and Speech Pathology University of MelbourneParkvilleVictoriaAustralia The University of Sydney School of Medical Sciences and Discipline of Child and Adolescent HealthFaculty of Medicine and HealthSydneyAustralia Molecular Neurobiology Lab Kids ResearchWestmead Children's HospitalWestmeadSydneyAustralia Kids Neuroscience Centre Kids ResearchChildren's Hospital at WestmeadWestmeadSydneyAustralia
Pathogenic variants in methyl-Cp G protein 2(MECP2;OMIM300005)result in an X-linked,severe,and progressive epigenetic disorder,Rett syndrome(RTT,OMIM:312750),that predominantly affects females(Rett,1966).Using Neul’s... 详细信息
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