Redefining the Etiologic Landscape of Cerebellar Malformations

Cerebellar malformations are diverse congenital anomalies frequently associated with developmental disability. Although genetic and prenatal non-genetic causes have been described, no systematic analysis has been performed. Here, we present a large-exome sequencing study of Dandy-Walker malformation...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Aldinger, Kimberly A., Timms, Andrew E., Thomson, Zachary, Mirzaa, Ghayda M., Bennett, James T., Rosenberg, Alexander B., Roco, Charles M., Hirano, Matthew, Abidi, Fatima, Haldipur, Parthiv, Cheng, Chi V., Collins, Sarah, Park, Kaylee, Zeiger, Jordan, Overmann, Lynne M., Alkuraya, Fowzan S., Biesecker, Leslie G., Braddock, Stephen R., Cathey, Sara, Cho, Megan T., Chung, Brian H.Y., Everman, David B., Zarate, Yuri A., Jones, Julie R., Schwartz, Charles E., Goldstein, Amy, Hopkin, Robert J., Krantz, Ian D., Ladda, Roger L., Leppig, Kathleen A., McGillivray, Barbara C., Sell, Susan, Wusik, Katherine, Gleeson, Joseph G., Nickerson, Deborah A., Bamshad, Michael J., Gerrelli, Dianne, Lisgo, Steven N., Seelig, Georg, Ishak, Gisele E., Barkovich, A. James, Curry, Cynthia J., Glass, Ian A., Millen, Kathleen J., Doherty, Dan, Dobyns, William B.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2019
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6731369/
https://ncbi.nlm.nih.gov/pubmed/31474318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.07.019
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