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Article

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.

European journal of human genetics : EJHG - 1 Feb 2013

Lalani Seema R, Shaw Chad, Wang Xueqing, Patel Ankita, Patterson Lance W, Kolodziejska Katarzyna, Szafranski Przemyslaw, Ou Zhishuo, Tian Qi, Kang Sung-Hae L, Jinnah Amina, Ali Sophia, Malik Aamir, Hixson Patricia, Potocki Lorraine, Lupski James R, Stankiewicz Pawel, Bacino Carlos A, Dawson Brian, Beaudet Arthur L, Boricha Fatima M, Whittaker Runako, Li Chumei, Ware Stephanie M, Cheung Sau Wai, Penny Daniel J, Jefferies John Lynn, Belmont John W

Abstract excerpt

Clinically significant cardiovascular malformations (CVMs) occur in 5-8 per 1000 live births. Recurrent copy number variations (CNVs) are among the known causes of syndromic CVMs, accounting for an important fraction of cases. We hypothesized that many additional rare CNVs also cause CVMs and can be detected in patients with CVMs plus extracardiac anomalies (ECAs). Through a genome-wide survey of 203 subjects...

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Identifiers

PMID: 22929023
DOI: 10.1038/ejhg.2012.155
PMCID: PMC3548268

Genes

GATA4
PDE1A
SOX7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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