Article
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.
Genetic epidemiology - 1 Sept 2010
Locke Adam E, Dooley Kenneth J, Tinker Stuart W, Cheong Soo Yeon, Feingold Eleanor, Allen Emily G, Freeman Sallie B, Torfs Claudine P, Cua Clifford L, Epstein Michael P, Wu Michael C, Lin Xihong, Capone George, Sherman Stephanie L, Bean Lora J H
Abstract excerpt
Cardiac abnormalities are one of the most common congenital defects observed in individuals with Down syndrome. Considerable research has implicated both folate deficiency and genetic variation in folate pathway genes with birth defects, including both congenital heart defects (CHD) and Down syndrome (DS). Here, we test variation in folate pathway genes for a role in the major DS-associated CHD atrioventricular...
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