Journal article
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
Abstract
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 with CVMs and ECAs, we identified …
Authors
Lalani SR; Shaw C; Wang X; Patel A; Patterson LW; Kolodziejska K; Szafranski P; Ou Z; Tian Q; Kang S-HL
Journal
European Journal of Human Genetics, Vol. 21, No. 2, pp. 173–181
Publisher
Springer Nature
Publication Date
February 2013
DOI
10.1038/ejhg.2012.155
ISSN
1018-4813
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
AneuploidyCardiovascular DiseasesChromosome DisordersChromosomes, Human, Pair 16Chromosomes, Human, Pair 22Cohort StudiesDNA Copy Number VariationsEye AbnormalitiesFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideProtein Interaction MapsSequence Deletion