Thorson W, Diaz-Horta O, Foster J, Spiliopoulos M, Quintero R, Farooq A, Blanton S, Tekin M. De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. Hum Genet. 2014 Jun;133(6):737–42. doi: 10.1007/s00439-013-1406-0. PMID: 24337657.