Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
American Journal Of Human Genetics
Hoyer, Juliane J; Ekici, Arif B AB; Endele, Sabine S; Popp, Bernt B; Zweier, Christiane C; Wiesener, Antje A; Wohlleber, Eva E; Dufke, Andreas A; Rossier, Eva E; Petsch, Corinna C; Zweier, Markus M; Göhring, Ina I; Zink, Alexander M AM; Rappold, Gudrun G; Schröck, Evelin E; Wieczorek, Dagmar D; Riess, Olaf O; Engels, Hartmut H; Rauch, Anita A; Reis, André A
Publication Date: 2012-03-09
Variant appearance in text: BAF250a: 3323_3324delAA