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

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...

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Main Authors: 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.
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2003
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180354/
https://ncbi.nlm.nih.gov/pubmed/12621583
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