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Article

Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.

Disease markers - 1 Jan 2010

Guida Valentina, Lepri Francesca, Vijzelaar Raymon, De Zorzi Andrea, Versacci Paolo, Digilio Maria Cristina, Marino Bruno, De Luca Alessandro, Dallapiccola Bruno

Abstract excerpt

GATA4 mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. In addition, GATA4 is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malforma...

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Identifiers

PMID: 20592452
DOI: 10.3233/DMA-2010-0703
PMCID: PMC3833239

Genes

GATA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20592452-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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