De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

PURPOSE: Hemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevale...

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Vydáno v:Genet Med
Hlavní autoři: Zarrei, Mehdi, Fehlings, Darcy L, Mawjee, Karizma, Switzer, Lauren, Thiruvahindrapuram, Bhooma, Walker, Susan, Merico, Daniele, Casallo, Guillermo, Uddin, Mohammed, MacDonald, Jeffrey R, Gazzellone, Matthew J, Higginbotham, Edward J, Campbell, Craig, deVeber, Gabrielle, Frid, Pam, Gorter, Jan Willem, Hunt, Carolyn, Kawamura, Anne, Kim, Marie, McCormick, Anna, Mesterman, Ronit, Samdup, Dawa, Marshall, Christian R, Stavropoulos, Dimitri J, Wintle, Richard F, Scherer, Stephen W
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2018
Témata:
Original Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5846809/
https://ncbi.nlm.nih.gov/pubmed/28771244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.83
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