Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2008213.pdf
Reference25 articles.
1. Dobyns WB, Truwit CL, Ross ME et al: Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999; 53: 270–277.
2. Pilz DT, Macha ME, Precht KS, Smith AC, Dobyns WB, Ledbetter DH : Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. Genet Med 1998; 1: 29–33.
3. Pilz DT, Matsumoto N, Minnerath S et al: LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 1998; 7: 2029–2037.
4. Barkovich AJ, Jackson Jr DE, Boyer RS : Band heterotopias: a newly recognized neuronal migration anomaly. Radiology 1989; 171: 455–458.
5. Cardoso C, Leventer RJ, Ward HL et al: Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet 2003; 72: 918–930.
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