De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. [electronic resource]
Producer: 20160614Description: 2231-7 p. digitalISSN:- 1552-4833
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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