De Novo Copy Number Variants Identify New Genes and Loci in Isolated, Sporadic Tetralogy of Fallot

Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. A genome-wide survey of 114 TOF patients and their unaffected parents identified 11 de novo copy number variants (CNVs) that were absen...

Descripción completa

Detalles Bibliográficos
Autores principales: Greenway, Steven C, Pereira, Alexandre C, Lin, Jennifer C, DePalma, Steven R, Israel, Samuel J, Mesquita, Sonia M, Ergul, Emel, Conta, Jessie R, Korn, Joshua M, McCarroll, Steven A, Gorham, Joshua M, Gabriel, Stacey, Altshuler, David A, de Lourdes Quintanilla-Dieck, Maria, Artunduaga, Maria Alexandra, Eavey, Roland D, Plenge, Robert M, Shadick, Nancy A, Weinblatt, Michael E, De Jager, Philip L, Hafler, David A, Breitbart, Roger E, Seidman, J G, Seidman, Christine E
Formato: Texto
Lenguaje:English
Publicado: 2009
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2747103/
https://www.ncbi.nlm.nih.gov/pubmed/19597493
http://dx.doi.org/10.1038/ng.415

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2747103/
https://www.ncbi.nlm.nih.gov/pubmed/19597493
http://dx.doi.org/10.1038/ng.415

Ejemplares similares