De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
Parker, Michael J
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. [electronic resource] - American journal of medical genetics. Part A Oct 2015 - 2231-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.37189 doi
Adolescent
Child
Child, Preschool
Constipation--diagnosis
DNA Mutational Analysis
Epilepsies, Myoclonic--diagnosis
Female
Gait Disorders, Neurologic--diagnosis
Gene Expression
Haploinsufficiency
Heterozygote
Hip Dislocation--diagnosis
Humans
Intellectual Disability--diagnosis
Male
Muscle Hypotonia--diagnosis
Mutation
Phenotype
Strabismus--diagnosis
Twins, Monozygotic
ras GTPase-Activating Proteins--genetics
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. [electronic resource] - American journal of medical genetics. Part A Oct 2015 - 2231-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.37189 doi
Adolescent
Child
Child, Preschool
Constipation--diagnosis
DNA Mutational Analysis
Epilepsies, Myoclonic--diagnosis
Female
Gait Disorders, Neurologic--diagnosis
Gene Expression
Haploinsufficiency
Heterozygote
Hip Dislocation--diagnosis
Humans
Intellectual Disability--diagnosis
Male
Muscle Hypotonia--diagnosis
Mutation
Phenotype
Strabismus--diagnosis
Twins, Monozygotic
ras GTPase-Activating Proteins--genetics