Clinical impacts of genomic copy number gains at Xq28
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/hgv20141.pdf
Reference49 articles.
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3. Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet 2008; 40: 1065–1067.
4. Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A et al. Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hum Genet 2012; 131: 99–110.
5. Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K et al. Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. J Hum Genet 2011; 56: 561–565.
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