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Rare Copy Number Variants in a Population Based Investigation of Hypoplastic Right Heart Syndrome

BACKGROUND: Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNV...

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Dettagli Bibliografici
Pubblicato in:Birth Defects Res
Autori principali: Dimopoulos, Aggeliki, Sicko, Robert J., Kay, Denise M., Rigler, Shannon L., Druschel, Charlotte M., Caggana, Michele, Browne, Marilyn L., Fan, Ruzong, Romitti, Paul A., Brody, Lawrence C., Mills, James L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5388571/
https://ncbi.nlm.nih.gov/pubmed/28009100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/bdra.23586
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