Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature

MeSH terms

• Adolescent
• Autistic Disorder
• Female
• Genes, X-Linked / genetics*
• Genetic Predisposition to Disease / genetics*
• Genomics
• Humans
• Intellectual Disability / genetics*
• Intellectual Disability / physiopathology
• Male
• Mutation, Missense*
• Pedigree
• Phenotype*
• p21-Activated Kinases / genetics*
• p21-Activated Kinases / metabolism