Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

被引：0
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作者：
Joe C H Sim
Susan M White
Elizabeth Fitzpatrick
Gabrielle R Wilson
Greta Gillies
Kate Pope
Hayley S Mountford
Pernille M Torring
Shane McKee
Anneke T Vulto-van Silfhout
Shalini N Jhangiani
Donna M Muzny
Richard J Leventer
Martin B Delatycki
David J Amor
Paul J Lockhart
机构：
[1] Murdoch Childrens Research Institute,Bruce Lefroy Centre for Genetic Health Research
[2] The University of Melbourne,Department of Paediatrics
[3] Odense University Hospital,Department of Clinical Genetics
[4] University of Southern Denmark,Northern Ireland Regional Genetics Service
[5] Belfast City Hospital,Department of Human Genetics
[6] Radboud University Medical Center,Human Genome Sequencing Center
[7] Baylor College of Medicine,Department of Neurology
[8] Royal Children’s Hospital,Clinical Genetics, Austin Health
[9] Heidelberg,undefined
来源：
Orphanet Journal of Rare Diseases | / 9卷
关键词：
Intellectual disability; Chromatin remodelling; Coffin-Siris syndrome; ARID1B mutation; Cell cycle; Haploinsufficiency;
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