Article

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

2026-02-12

Abstract excerpt

<title>Abstract</title> <p>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 heterozygous variants in DAW1, a dynein arm assembly factor, in a proband w...

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Literature Corpus work: 1a415045-c311-57ef-a25e-25ec203722ac
DOI: 10.21203/rs.3.rs-8745655/v1

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