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Article

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.

European journal of human genetics : EJHG - 1 Jan 2014

Polan Michelle B, Pastore Matthew T, Steingass Katherine, Hashimoto Sayaka, Thrush Devon L, Pyatt Robert, Reshmi Shalini, Gastier-Foster Julie M, Astbury Caroline, McBride Kim L

Abstract excerpt

Recent studies have shown that certain copy number variations (CNV) are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorders (ASD), bipolar disorder and intellectual disabilities. Implicated regions and genes have comprised a variety of post synaptic complex proteins and neurotransmitter receptors, including gamma-amino butyric acid A (GABAA). Clusters of GABAA...

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Share to Child Development Disorders, Pervasive
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Developmental Disabilities

Share to DNA Copy Number Variations

Share to Gene Duplication

Share to In Situ Hybridization, Fluorescence

Share to Receptors, GABA-A

Source

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Identifiers

PMID: 23695283
DOI: 10.1038/ejhg.2013.99
PMCID: PMC3865421

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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