Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesia
Dana Urbatsch, Anburaj Jeyaraj, Shruti Bedekar, Venkatramanan G. Rao, Shelby C. White, M. Thomas, Andrea S. Garrod, Christina M. Peroutka, Aakrosh Ratan, Saurabh S. Kulkarni
The paper identifies DAW1 variants in a patient with heterotaxy and congenital heart disease, showing tissue-specific functional effects without primary ciliary dyskinesia.
medRxiv · Jan 29, 2026 · PreprintGenetic & Genomic Medicine