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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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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley Subscription Services, Inc., A Wiley Company
2012
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| Assuntos: | |
| Acesso em linha: | 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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