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Article

Copy number variants in Ebstein anomaly.

PloS one - 1 Jan 2017

Giannakou Andreas, Sicko Robert J, Zhang Wei, Romitti Paul, Browne Marilyn L, Caggana Michele, Brody Lawrence C, Jelliffe-Pawlowski Laura, Shaw Gary M, Kay Denise M, Mills James L

Abstract excerpt

BACKGROUND: Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with genetic syndromes and copy number variants (CNVs) suggest a genetic component. OBJECTIVE: We performed a population-based study to search for...

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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: 29216221
DOI: 10.1371/journal.pone.0188168
PMCID: PMC5720705

Genes

AKAP12
CUX1
FGF12
HES3
NODAL
PDLIM5
SIX1
TRIM71

Provenance

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