Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
Author:
Funder
Centre Hospitalier Régional Universitaire de Montpellier
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12920-019-0558-8.pdf
Reference26 articles.
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3. Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A. 2006;140A:2063–74.
4. Kumar A, Becker LA, Depinet TW, Haren JM, Kurtz CL, Robin NH, et al. Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements. Hum Genet. 1998;103:173 https://doi.org/10.1007/PL00008706 .
5. Dupont J-M, Cuisset L, Cartigny M, Le Tessier D, Vasseur C, Rabineau D, et al. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient. Am J Med Genet. 2002;111:405–8.
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