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Article

Genetic abnormalities in FOXP1 are associated with congenital heart defects.

Human mutation - 1 Sept 2013

Chang Sheng-Wei, Mislankar Mona, Misra Chaitali, Huang Nianyuan, Dajusta Daniel G, Harrison Steven M, McBride Kim L, Baker Linda A, Garg Vidu

Abstract excerpt

The etiology for the majority of congenital heart defects (CHD) is unknown. We identified a patient with unbalanced atrioventricular septal defect (AVSD) and hypoplastic left ventricle who harbored an ~0.3 Mb monoallelic deletion on chromosome 3p14.1. The deletion encompassed the first four exons...

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Topics

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Share to Chromosomes, Human, Pair 3
Share to Forkhead Transcription Factors
Share to Haploinsufficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Heart Septal Defects

Share to Homeobox Protein Nkx-2.5

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Source

Open in PubMed Open full text

Identifiers

PMID: 23766104
DOI: 10.1002/humu.22366
PMCID: PMC5717756

Genes

FOXP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23766104-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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