MAB21L2 and isolated aniridia: The c.152G>T p.(Arg51Leu) variant in individuals 1A and 1B was also associated with aniridia and represents the strongest likely causative allele identified in our study, with high functional predictions and complete absence in the general population; in vitro and in vivo studies identified normal localization but higher stability and inability to functionally rescue mab21l2 deficiency.