Ontology highlight
ABSTRACT:
SUBMITTER: Vaags AK
PROVIDER: S-EPMC3257896 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
American journal of human genetics 20111229 1
The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important roles in synapse development and function. In autism spectrum disorder (ASD), as well as in other neurodevelopmental conditions, rare exonic copy-number variants and/or point mutations have been identified in the NRXN1 and NRXN2 loci. We present clinical characterization of four index cases who have been diagnosed with ASD and ...[more]