Birth defects research. Part A, Clinical and molecular teratology
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Birth Defects Res. Part A Clin. Mol. Teratol. · Dec 2014
Comparative StudyAnalysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.
We sought to characterize the landscape of structural variation associated with the subset of congenital cardiac defects characterized by left-sided obstruction. ⋯ This study examines the largest cohort to date with LSCD for structural variation. These data suggest that CNVs play a role in disease risk and identify numerous genes disrupted by CNVs of potential disease relevance. These findings further highlight the genetic heterogeneity and complexity of these disorders.