Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2 - Wen, J; Lopes, F; Soares, G; Farrell, S A; Nelson, C; Qiao, Y; Martell, S; Badukke, C; Bessa, C; Ylstra, B; Lewis, S; Isoherranen, N; Maciel, P; Rajcan-Separovic, E (Orphanet J Rare Dis, 2013)