Case report
Open access
Sep 2026
Case report end-stage cystic fibrosis with fatal outcome in two siblings from a Chinese family: a 15-year diagnostic odyssey
The preserved pancreatic function despite end-stage CF lung disease is compatible with residual CFTR activity, but the contribution of either allele and potential responsiveness to CFTR modulators require transcript, protein, and functional characterization.
Yue-Lin Shen, Qiong-Hua Chen, Hai-Ming Yang
· Frontiers in Pharmacology · 0 citations