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Missense Substitutions at a Conserved 14-3-3 Binding Site in HDAC4 Cause a Novel Intellectual Disability Syndrome

Emma Wakeling,Meriel McEntagart,Michael Bruccoleri,Charles Shaw-Smith,Karen L. Stals,Matthew Wakeling,Angela Barnicoat,Clare Beesley,Andrea K. Hanson-Kahn,Mary Kukolich,David A. Stevenson,Philippe M. Campeau,Sian Ellard,Sarah H. Elsea,Xiang-Jiao Yang,Richard C. Caswell

Human Genetics and Genomics Advances（2021）

引用 7|浏览16
关键词
Histone deacetylase 4,intellectual disability,gain-of-function,14-3-3 binding
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