A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

Am J Med Genet A. 2010 Sep;152A(9):2376-8. doi: 10.1002/ajmg.a.33554.

Authors

Ana Cristina V Krepischi¹, Carla Rosenberg, Silvia S Costa, John A Crolla, Shuwen Huang, Angela M Vianna-Morgante

Affiliation

¹ Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S~ao Paulo, S~ao Paulo, Brazil.

PMID: 20683986
DOI: 10.1002/ajmg.a.33554

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics
Child
Chromosomes, Human, Pair 6 / genetics*
DNA Mutational Analysis
Gene Deletion*
Humans
Intellectual Disability / genetics*
Male
ras GTPase-Activating Proteins / genetics*

Substances

SYNGAP1 protein, human
ras GTPase-Activating Proteins