Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity
Author:
Funder
EC | Seventh Framework Programme
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-019-0335-3.pdf
Reference38 articles.
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2. van Kogelenberg M, Ghedia S, McGillivray G, et al. Periventricular heterotopia in common microdeletion syndromes. Mol Syndromol. 2010;1:35–41.
3. Fox JW, Lamperti ED, Eksioglu YZ, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998;21:1315–25.
4. Sheen VL, Ganesh VS, Topcu M, et al. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet. 2004;36:69–76.
5. Oegema R, Baillat D, Schot R, et al. Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 2017;13:e1006809.
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