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S. Kulkarni

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Open access Sep 2026

Biallelic DAW1 variants reveal a tissue-specific role in heterotaxy without primary ciliary dyskinesia.

Defects in motile cilia cause a range of disorders, including heterotaxy (HTX), congenital heart disease (CHD), and primary ciliary dyskinesia (PCD). Although these conditions often co-occur, the genetic and mechanistic bases for tissue-specific manifestations remain poorly understood. Here, we identify compound hetero...

Dana Urbatsch, Anburaj Jeyaraj, Shruti Bedekar et al. · 0 citations

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