A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation.
Krepischi
Ana Cristina V
AC
Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S~ao Paulo, S~ao Paulo, Brazil.
Rosenberg
Carla
C
Costa
Silvia S
SS
Crolla
John A
JA
Huang
Shuwen
S
Vianna-Morgante
Angela M
AM
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*
C484739:SYNGAP1 protein, human; D020703:ras GTPase-Activating Proteins