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Article

Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects.

European journal of medical genetics - 1 Apr 2012

Arrington Cammon B, Dowse Benjamin R, Bleyl Steven B, Bowles Neil E

Abstract excerpt

Congenital cardiac malformations are one of the most common birth defects and most are believed to be multigenic/multifactorial in nature. Recently mice lacking Pre-B cell leukemia transcription homeobox (PBX) genes were created and found to have a range of ventricular outflow tract (OFT) malformations. Therefore, we screened 95 patients with congenital heart defects, including OFT malformations, for variants in...

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Source

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Identifiers

PMID: 22426282
DOI: 10.1016/j.ejmg.2012.02.002
PMCID: PMC3342453

Genes

MEIS1
PBX1
PBXIP1
PKNOX1
PKNOX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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