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References

1. Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K,Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S,Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB,Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C,Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, KrantzID, Shirahige K. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesinacetylation cycle. Nature. 2012 Sep 13;489(7415):313-7. doi: 10.1038/nature11316.
2. Decroos C, Bowman CM, Moser JA, Christianson KE, Deardorff MA, ChristiansonDW. Compromised structure and function of HDAC8 mutants identified in Cornelia deLange Syndrome spectrum disorders. ACS Chem Biol. 2014 Sep 19;9(9):2157-64. doi: 10.1021/cb5003762.
3. Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, DuranK, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, vanHaaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK. X-exomesequencing identifies a HDAC8 variant in a large pedigree with X-linkedintellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusualface. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921.
4. Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, WildeJJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, BradleyJJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, DymentDA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E,Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H,Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L,McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E,Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS,Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, ScheuerleAE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P,Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR,Deardorff MA. Loss-of-function HDAC8 mutations cause a phenotypic spectrum ofCornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi:10.1093/hmg/ddu002.
5. Mordaunt DA, McLauchlan A. HDAC8-deficiency causes an X-linked dominantdisorder with a wide range of severity. Clin Genet. 2015 Jul;88(1):98. doi:10.1111/cge.12588.