Associated Papers
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.
Simoes C et al.
Bmc Pediatrics, 2022
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
Pagnamenta AT et al.
Journal of Human Genetics, 2012
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
Friocourt G et al.
Acta Neuropathologica, 2011
Missense mutations resulting in type 1 lissencephaly.
Reiner O et al.
Cellular and Molecular Life Sciences : Cmls, 2005
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
Sicca F et al.
Neurology, 2003
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