Article
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
American journal of human genetics - 5 Oct 2012
Ackerman Christine, Locke Adam E, Feingold Eleanor, Reshey Benjamin, Espana Karina, Thusberg Janita, Mooney Sean, Bean Lora J H, Dooley Kenneth J, Cua Clifford L, Reeves Roger H, Sherman Stephanie L, Maslen Cheryl L
Abstract excerpt
About half of people with trisomy 21 have a congenital heart defect (CHD), whereas the remainder have a structurally normal heart, demonstrating that trisomy 21 is a significant risk factor but is not causal for abnormal heart development. Atrioventricular septal defects (AVSD) are the most commonly occurring heart defects in Down syndrome (DS), and ∼65% of all AVSD is associated with DS. We used a candidate-gene...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.