AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia

(2011) Lucia Ballarati et al.   European Journal of Medical Genetics

X-linked mental retardation and/or hydrocephalus

(2010) K. Fried   CLINICAL GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2

(2009) Mélissa Yana Frédéric et al.   HUMAN MUTATION

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Clinical, cellular, and neuropathological consequences ofAP1S2mutations: further delineation of a recognizable X-linked mental retardation syndrome

(2008) Guntram Borck et al.   HUMAN MUTATION