TY  - GEN
AU  - Parker,Michael J
AU  - Fryer,Alan E
AU  - Shears,Deborah J
AU  - Lachlan,Katherine L
AU  - McKee,Shane A
AU  - Magee,Alex C
AU  - Mohammed,Shehla
AU  - Vasudevan,Pradeep C
AU  - Park,Soo-Mi
AU  - Benoit,Valérie
AU  - Lederer,Damien
AU  - Maystadt,Isabelle
AU  - Study,Ddd
AU  - FitzPatrick,David R
TI  - De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
SN  - 1552-4833
PY  - 2016///0614
KW  - Adolescent
KW  - Child
KW  - Child, Preschool
KW  - Constipation
KW  - diagnosis
KW  - DNA Mutational Analysis
KW  - Epilepsies, Myoclonic
KW  - Female
KW  - Gait Disorders, Neurologic
KW  - Gene Expression
KW  - Haploinsufficiency
KW  - Heterozygote
KW  - Hip Dislocation
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Muscle Hypotonia
KW  - Mutation
KW  - Phenotype
KW  - Strabismus
KW  - Twins, Monozygotic
KW  - ras GTPase-Activating Proteins
KW  - genetics
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.37189
ER  -