De novo autosomal dominant mutation in SYNGAP1

Autism Research

Volumn 4, Issue 2, 2011, Pages 155-156

  Cook, Edwin H ^a  

^a UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTISM; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; INTELLECTUAL DISABILITY; LEARNING; MALE; MENTAL DEFICIENCY; NOTE; PRIORITY JOURNAL; SYNGAP1 GENE;

AUTISTIC DISORDER; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; RAS GTPASE-ACTIVATING PROTEINS;

EID: 79953746282     PISSN: 19393792     EISSN: 19393806     Source Type: Journal    
DOI: 10.1002/aur.198     Document Type: Note

References (3)

1. Hamdan, F. F., Daoud, H., Piton, A., Gauthier, J., Dobrzeniecka, S., et al. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biological Psychiatry, published online in advance of print.
2. Hamdan, F.F., Gauthier, J., Spiegelman, D., Noreau, A., Yang, Y., et al. (2009). Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. New England Journal of Medicine, 360, 599-605.
3. Pinto, D., Pagnamenta, A.T., Klei, L., Anney, R., Merico, D., et al. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466, 368-372.