Article
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.
Journal of medical genetics - 1 Aug 2013
Willemsen Marjolein H, Nijhof Bonnie, Fenckova Michaela, Nillesen Willy M, Bongers Ernie M H F, Castells-Nobau Anna, Asztalos Lenke, Viragh Erika, van Bon Bregje W M, Tezel Emre, Veltman Joris A, Brunner Han G, de Vries Bert B A, de Ligt Joep, Yntema Helger G, van Bokhoven Hans, Isidor Bertrand, Le Caignec Cédric, Lorino Elsa, Asztalos Zoltan, Koolen David A, Vissers Lisenka E L M, Schenck Annette, Kleefstra Tjitske
Abstract excerpt
BACKGROUND: GATA zinc finger domain containing 2B (GATAD2B) encodes a subunit of the MeCP1-Mi-2/nucleosome remodelling and deacetylase complex involved in chromatin modification and regulation of transcription. We recently identified two de novo loss-of-function mutations in GATAD2B by whole exom...
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