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Article

Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome.

Clinical and translational science - 1 Dec 2015

Glidewell Steven C, Miyamoto Shelley D, Grossfeld Paul D, Clouthier David E, Coldren Christopher D, Stearman Robert S, Geraci Mark W

Abstract excerpt

BACKGROUND: Hypoplastic left heart syndrome (HLHS) is a heterogeneous, lethal combination of congenital malformations characterized by severe underdevelopment of left heart structures, resulting in a univentricular circulation. The genetic determinants of this disorder are largely unknown. Evidence of copy number variants (CNVs) contributing to the genetic etiology of HLHS and other congenital heart defects has...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26534787
DOI: 10.1111/cts.12340
PMCID: PMC4703543

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