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
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.
Ballarati L et al.
European Journal of Medical Genetics, 2012
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
Select a paper to view details