Format

Send to

Choose Destination
See comment in PubMed Commons below
Mol Syndromol. 2012 Apr;2(3-5):181-185. Epub 2011 Sep 8.

Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1.

Author information

1
Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.

Abstract

While heterozygous variants in CNTNAP2 and NRXN1 are reported as susceptibility factors for neuropsychiatric disorders, homozygous or compound heterozygous defects in either gene were reported as causative for severe neurodevelopmental disorders. This review provides an overview of the clinical aspects in patients with recessive defects in CNTNAP2 and NRXN1.

PMID:
22670139
PMCID:
PMC3366709
DOI:
000331270
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for S. Karger AG, Basel, Switzerland Icon for PubMed Central
    Loading ...
    Support Center