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Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
Am J Hum Genet. 2006 Aug;79(2):370-7. doi: 10.1086/505693. Epub 2006 Jun 13.
Am J Hum Genet. 2006.
PMID: 16826528
Free PMC article.
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, 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, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG.
Kleefstra T, et al.
J Med Genet. 2009 Sep;46(9):598-606. doi: 10.1136/jmg.2008.062950. Epub 2009 Mar 4.
J Med Genet. 2009.
PMID: 19264732
Free article.
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