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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Brain
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
Reports
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados