Article
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.
American journal of human genetics - 1 Apr 2003
Cardoso Carlos, Leventer Richard J, Ward Heather L, Toyo-Oka Kazuhito, Chung June, Gross Alyssa, Martin Christa L, Allanson Judith, Pilz Daniela T, Olney Ann H, Mutchinick Osvaldo M, Hirotsune Shinji, Wynshaw-Boris Anthony, Dobyns William B, Ledbetter David H
Abstract excerpt
Deletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS). At the clinical level, these two phenotypes can be differentiated by the presence of significant dysmorphic facial features and a more severe...
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