Tantravahi SK, Williams LB, Digre KB, Creel DJ, Smock KJ, Deangelis MM, Clayton FC, Vitale AT, Rodgers GM. An inherited disorder with splenomegaly, cytopenias, and vision loss. Am J Med Genet A. 2012 Mar;158A(3):475-81. doi: 10.1002/ajmg.a.34437. Epub 2012 Feb 3.