Characterizing individuals with elevated sweat chloride results in the absence of CFTR variants
The clinical features of patients with elevated sweat chlorides in the absence of CFTR variants are distinct from patients with CFTR variants and comparable sweat chlorides. Further investigation into this subset of patients may elucidate alternative causes for this CF-like phenotype.
Authors
- Bradley S. Quon (ORCID: https://orcid.org/0000-0003-1785-3870)
- Ishmam Bhuiyan
- Alessandro Franciosi
- James M. Roberts (ORCID: https://orcid.org/0000-0001-6823-2324)
- Frank Y. Chou
Institutions
- University of British Columbia (CA)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-29
- DOI
- https://doi.org/10.1186/s13023-025-04145-w
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00