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References

1. Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, GenevièveD, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB,van Bokhoven H. Loss-of-function mutations in euchromatin histone methyltransferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J HumGenet. 2006 Aug;79(2):370-7.
2. Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP,Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, BrunnerHG, de Vries BB, van Bokhoven H. Disruption of the gene Euchromatin HistoneMethyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomericdeletion syndrome. J Med Genet. 2005 Apr;42(4):299-306.
3. Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, FouldsN, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, BruetonLA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H,Brunner HG. Further clinical and molecular delineation of the 9q subtelomericdeletion syndrome supports a major contribution of EHMT1 haploinsufficiency tothe core phenotype. J Med Genet. 2009 Sep;46(9):598-606. doi:10.1136/jmg.2008.062950.
4. Stewart DR, Kleefstra T. The chromosome 9q subtelomere deletion syndrome. Am JMed Genet C Semin Med Genet. 2007 Nov 15;145C(4):383-92. Review.
5. Willemsen MH, Beunders G, Callaghan M, de Leeuw N, Nillesen WM, Yntema HG, vanHagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG,Tolmie J, Kleefstra T. Familial Kleefstra syndrome due to maternal somaticmosaicism for interstitial 9q34.3 microdeletions. Clin Genet. 2011Jul;80(1):31-8. doi: 10.1111/j.1399-0004.2010.01607.x.
6. Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR.Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3microdeletion syndrome. Hum Mol Genet. 2009 Jun 1;18(11):1924-36. doi:10.1093/hmg/ddp114.