Associated Papers
A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability.
Noojarern S et al.
American Journal of Medical Genetics. Part A, 2024
Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.
Zhu D et al.
Neurogenetics, 2022
A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review.
Huo L et al.
Brain and Behavior, 2019
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.
Ballarati L et al.
European Journal of Medical Genetics, 2012
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Tarpey PS et al.
Nature Genetics, 2009
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
Borck G et al.
Human Mutation, 2008
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
Saillour Y et al.
Journal of Medical Genetics, 2007
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.
Tarpey PS et al.
American Journal of Human Genetics, 2006
Select a paper to view details