Video Upload Options

References

1. Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N. 9q34.3 deletion syndrome in three unrelated children. Am J Med GenetA. 2004 Apr 30;126A(3):278-83. Review.
2. 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.
3. Kleefstra T, de Leeuw N. Kleefstra Syndrome. 2010 Oct 5 [updated 2019 Mar 21].In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK47079/
4. 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.
5. 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.
6. Neas KR, Smith JM, Chia N, Huseyin S, St Heaps L, Peters G, Sholler G, TzioumiD, Sillence DO, Mowat D. Three patients with terminal deletions within thesubtelomeric region of chromosome 9q. Am J Med Genet A. 2005 Feb1;132A(4):425-30. Review.
7. 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.
8. Verhoeven WM, Egger JI, Vermeulen K, van de Warrenburg BP, Kleefstra T.Kleefstra syndrome in three adult patients: further delineation of the behavioraland neurological phenotype shows aspects of a neurodegenerative course. Am J Med Genet A. 2011 Oct;155A(10):2409-15. doi: 10.1002/ajmg.a.34186.
9. 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.