Novel homozygous <i>C3orf67</i> gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report
This case highlights the importance of genetic studies in diagnosing PCD, particularly in communities with a high rate of consanguinity. The identification of a novel homozygous variant in the <i>C3orf67</i> gene expands the known genetic landscape of the disease. Further research is essential to clarify the functional role of <i>C3orf67</i> in ciliary biology and its contribution to PCD pathogenesis.
Institutions
- Cairo University (EG)
- University of Würzburg (DE)
- Armed Forces Hospital (SA)
- Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- World Journal of Experimental Medicine
- Published
- 2025-12-19
- DOI
- https://doi.org/10.5493/wjem.v15.i4.108404
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00