Genetic & Genomic MedicinemedRxivPreprint
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…·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.
DOI 10.64898/2026.01.27.26344789