Citations for
1CDLS, CDLS2, CDLS4, CDLS5, CDLSX, HDAC8, NIPBL, RAD21, SMC1A, SMC3
Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts.
Fazio G, Bettini LR, Rigamonti S, Meta D, Biondi A, Cazzaniga G, Selicorni A, Massa V.
Birth Defects Res 109(16):1268-1276. doi: 10.1002/bdr2.1070. Epub 2017 Jul 28. 2017
2CDLS5, HDAC8
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
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, Krantz ID, Shirahige K.
Nature 489(7415):313-7. doi: 10.1038/nature11316. 2012
3CDLS5, HDAC8
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK.
J Med Genet 49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. 2012