Author

Jizu Ling

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Open access Jan 2026

A Case of Primary Ciliary Dyskinesia Caused by CFTR Gene and SFTPC Gene Variants

Variants in the CFTR and SFTPC genes may be associated with PCD in children, and this case highlights the importance of early genetic variant testing and ciliary ultrastructural analysis in children with recurrent respiratory tract infections, bronchiectasis, or chronic sinusitis.

Xin-Hui Yuan, Dan Shao, Yu-Mei Li et al. · Case Reports in Medicine · 0 citations