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Article

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome.

Birth defects research. Part A, Clinical and molecular teratology - 1 Feb 2009

Goldmuntz Elizabeth, Driscoll Deborah A, Emanuel Beverly S, McDonald-McGinn Donna, Mei Minghua, Zackai Elaine, Mitchell Laura E

Abstract excerpt

BACKGROUND: The phenotype associated with deletion of the 22q11.2 chromosomal region is highly variable, yet little is known about the source of this variability. Cardiovascular anomalies, including tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, perimembranous ventricula...

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Identifiers

PMID: 18770859
DOI: 10.1002/bdra.20501
PMCID: PMC2810963

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18770859-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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