Rare Copy Number Variants in Isolated Sporadic and Syndromic Atrioventricular Septal Defects

Atrioventricular septal defects (AVSDs) are a frequent but not universal component of Down syndrome (DS), while AVSDs in otherwise normal individuals have no well-defined genetic basis. The contribution of copy number variation (CNV) to specific congenital heart disease (CHD) phenotypes including AV...

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Bibliographische Detailangaben
Hauptverfasser: Priest, James R, Girirajan, Santhosh, Vu, Tiffany H, Olson, Aaron, Eichler, Evan E, Portman, Michael A
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley Subscription Services, Inc., A Wiley Company 2012
Schlagworte:
Research Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3564951/
https://ncbi.nlm.nih.gov/pubmed/22529060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35315
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