| Title: |
Heterozygous cis HYDINmutations cause primary ciliary dyskinesia |
| Authors: |
Suryadinata, Randy, Martinello, Paul, Bennett-Wood, Vicki, Robinson, Phil |
| Source: |
Med; January 2025, Vol. 6 Issue: 1 |
| Abstract: |
The product of ciliary gene HYDINis an integral component for c2b projection within the motile cilia central pair (CP) apparatus. Biallelic mutations of this gene cause primary ciliary dyskinesia (PCD), an uncommon heterogeneous recessive disorder affecting motile cilia, resulting in defective mucociliary clearance that leads to chronic suppurative lung disease. |
| Database: |
Supplemental Index |
