Article
Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.
Neurology - 9 Mar 2004
Torres F R, Montenegro M A, Marques-De-Faria A P, Guerreiro M M, Cendes F, Lopes-Cendes I
Abstract excerpt
The authors describe clinical, neuroimaging and molecular findings in a group of 15 patients with classic lissencephaly (LIS) and subcortical band heterotopia (SBH). A 1385A-->C mutation was found in the LIS1 gene in one patient with LIS more severe than expected for individuals with missense mut...
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