Author

Jyoti Maddhesiya

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Open access Sep 2026

Unravelling the role of IRX4 variants in non-syndromic and Down syndrome associated congenital heart disease

The aberrant expression of muteins as well as downstream target genes along with compromised activities of promoters substantiate the pathogenic potential of the identified IRX4 variants and underscore the critical role of IRX4 in regulating multiple stages of cardiogenesis.

Jyoti Maddhesiya, Kriti Jain, D. Jain et al. · bioRxiv · 0 citations