Article
Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping.
Disease models & mechanisms - 1 Nov 2024
Henderson Deborah J, Alqahtani Ahlam, Chaudhry Bill, Cook Andrew, Eley Lorraine, Houyel Lucile, Hughes Marina, Keavney Bernard, de la Pompa José Luis, Sled John, Spielmann Nadine, Teboul Lydia, Zaffran Stephane, Mill Pleasantine, Liu Karen J
Abstract excerpt
Congenital heart defects (CHDs), the most common congenital anomalies, are considered to have a significant genetic component. However, despite considerable efforts to identify pathogenic genes in patients with CHDs, few gene variants have been proven as causal. The complexity of the genetic architecture underlying human CHDs likely contributes to this poor genetic discovery rate. However, several other factors...
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