Associated Papers
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.
Pascolini G et al.
Journal of Molecular Neuroscience : Mn, 2021
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.
Duarte K et al.
Neurobiology of Disease, 2020
Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.
Qian Y et al.
Bmc Medical Genetics, 2020
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
33551980 (PubMed )
Supplement: Table_1.XLSX › variants
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
Iida A et al.
Cold Spring Harbor Molecular Case Studies, 2019
31444167 (PubMed )
Supplement: supp_mcs.a003988_Supplemental_Table_3.xlsx › supplement
Targeted resequencing identifies genes with recurrent variation in cerebral palsy.
van Eyk CL et al.
Npj Genomic Medicine, 2019
The emerging genetic landscape of cerebral palsy.
van Eyk CL et al.
Handbook of Clinical Neurology, 2018
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
Hertecant J et al.
European Journal of Medical Genetics, 2017
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