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Article

A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability.

American journal of medical genetics. Part A - 1 Jun 2013

Kasnauskiene Jurate, Ciuladaite Zivile, Preiksaitiene Egle, Utkus Algirdas, Peciulyte Agnė, Kučinskas Vaidutis

Abstract excerpt

We report on a 15-year-old patient with hyperactivity, intellectual disability and severe speech developmental delay. An array CGH analysis revealed de novo 2q34 deletion, 958 kb in size, involving a single protein coding gene ERBB4 (position 212,505,294-213,463,152; NCBI build 36). The ERBB4 gene is important in numerous neurobiological processes in both the developing and the adult brain. The NRG1-ERBB4...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23633123
DOI: 10.1002/ajmg.a.35911

Genes

ERBB4
NRG1

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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