Article
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Nature genetics - 1 Aug 2009
Greenway Steven C, Pereira Alexandre C, Lin Jennifer C, DePalma Steven R, Israel Samuel J, Mesquita Sonia M, Ergul Emel, Conta Jessie H, Korn Joshua M, McCarroll Steven A, Gorham Joshua M, Gabriel Stacey, Altshuler David M, Quintanilla-Dieck Maria de Lourdes, 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 Jonathan G, Seidman Christine E
Abstract excerpt
Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. We then examined a second, independent TOF cohort (n...
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