A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome
MIDEAS基因中的一种新发错义突变导致MiDAC HDAC复合物的去乙酰化酶活性增强,从而引起神经发育综合征。
期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-025-65472-x
Fairall, Louise; Sirvydis, Kristupas; Turnbull, Robert E; Knottnerus, Suzan Jg; Gonchar, Oksana; Muskett, Frederick W; Jukes-Jones, Rebekah; van Brussel, Lonneke; van de Geer, Ellen; van Gassen, Koen; Badenhorst, Paul; Johnson, Diana; Terhal, Paulien A; van Hasselt, Peter M; van Jaarsveld, Richard H; Schwabe, John Wr