De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

Using trio exome sequencing, we identified de novo heterozygous missense variants in PAK1 in four unrelated individuals with intellectual disability, macrocephaly and seizures. PAK1 encodes the p21-activated kinase, a major driver of neuronal development in humans and other organisms. In normal neur...

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Detaylı Bibliyografya
Yayımlandı:Brain
Asıl Yazarlar: Horn, Susanne, Au, Margaret, Basel-Salmon, Lina, Bayrak-Toydemir, Pinar, Chapin, Alexander, Cohen, Lior, Elting, Mariet W, Graham, John M, Gonzaga-Jauregui, Claudia, Konen, Osnat, Holzer, Max, Lemke, Johannes, Miller, Christine E, Rey, Linda K, Wolf, Nicole I, Weiss, Marjan M, Waisfisz, Quinten, Mirzaa, Ghayda M, Wieczorek, Dagmar, Sticht, Heinrich, Abou Jamra, Rami
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2019
Konular:
Reports
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6821231/
https://ncbi.nlm.nih.gov/pubmed/31504246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awz264
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