Unravelling the role of IRX4 variants in non-syndromic and Down syndrome associated congenital heart disease
Jyoti Maddhesiya, Kriti Jain, Dharmendra Jain, Ashok Kumar, Amit Rai, Bhagyalaxmi Mohapatra
The paper identifies IRX4 variants associated with non-syndromic and Down syndrome-related congenital heart disease and shows their pathogenic effects through functional assays.
bioRxiv · Sep 14, 2026 · PreprintGenetics