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Article

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.

European journal of human genetics : EJHG - 1 Mar 2013

Nagamani Sandesh C S, Erez Ayelet, Ben-Zeev Bruria, Frydman Moshe, Winter Susan, Zeller Robert, El-Khechen Dima, Escobar Luis, Stankiewicz Pawel, Patel Ankita, Cheung Sau Wai

Abstract excerpt

Small genomic rearrangements and copy-number variations (CNVs) involving a single gene have been associated recently with many neurocognitive phenotypes, including intellectual disability (ID), behavioral abnormalities, and autistic spectrum disorders (ASDs). Such small CNVs in the Autism susceptibility candidate 2 (AUTS2) gene have been shown to be associated with seizures, ID, and ASDs. We report four patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22872102
DOI: 10.1038/ejhg.2012.157
PMCID: PMC3573196

Genes

AUTS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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