Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2015123.pdf
Reference54 articles.
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3. Vissers LE, de Ligt J, Gilissen C et al: A de novo paradigm for mental retardation. Nat Genet 2010; 42: 1109–1112.
4. Hehir-Kwa JY, Pfundt R, Veltman JA, de Leeuw N : Pathogenic or not? Assessing the clinical relevance of copy number variants. Clin Genet 2013; 84: 415–421.
5. Cooper GM, Coe BP, Girirajan S et al: A copy number variation morbidity map of developmental delay. Nat Genet 2011; 43: 838–846.
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