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See Latest ArticlesA Novel Missense Mutation in LIS1 in a Child With Subcortical Band Heterotopia and Pachygyria Inherited From His Mildly Affected Mother With Somatic Mosaicism
Journal of Child Neurology, 10/26/09
Mineyko A et al. – The child’s mother was found to have the identical mutation as her son, with the signal intensity of the mutant allele being much lower than the normal allele, suggesting somatic mosaicism. This patient is one of only a few reported with a missense mutation in LIS1 associated with subcortical band heterotopia, and this is the first report of a mosaic individual having an affected child.
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