Disease: Dandy-Walker malformation with mental retardation- basal ganglia disease- and seizures
- A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review
- AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)
- GWASs and polygenic scores inherit all the old problems of heritability estimates
- Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability
- Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26)
- New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures