title: A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation.
authors.affiliation: Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S~ao Paulo, S~ao Paulo, Brazil.
authors.forename: Ana Cristina V
authors.initials: AC
authors.lastname: Krepischi
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
authors.forename: Silvia S
authors.initials: SS
authors.lastname: Costa
authors.forename: John A
authors.initials: JA
authors.lastname: Crolla
authors.forename: Shuwen
authors.initials: S
authors.lastname: Huang
authors.forename: Angela M
authors.initials: AM
authors.lastname: Vianna-Morgante
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D020703:ras GTPase-Activating Proteins / Q000235:genetics*
chemical_list: C484739:SYNGAP1 protein, human; D020703:ras GTPase-Activating Proteins