Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a “thin” lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disabil...

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Publicat a:Am J Hum Genet
Autors principals: Di Donato, Nataliya, Jean, Ying Y., Maga, A. Murat, Krewson, Briana D., Shupp, Alison B., Avrutsky, Maria I., Roy, Achira, Collins, Sarah, Olds, Carissa, Willert, Rebecca A., Czaja, Agnieszka M., Johnson, Rachel, Stover, Jessi A., Gottlieb, Steven, Bartholdi, Deborah, Rauch, Anita, Goldstein, Amy, Boyd-Kyle, Victoria, Aldinger, Kimberly A., Mirzaa, Ghayda M., Nissen, Anke, Brigatti, Karlla W., Puffenberger, Erik G., Millen, Kathleen J., Strauss, Kevin A., Dobyns, William B., Troy, Carol M., Jinks, Robert N.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5097945/
https://ncbi.nlm.nih.gov/pubmed/27773430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.09.010
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