An innovative strategy for personalised medicine in a CFSPID case that evolved with time
Publication date
2023-09
Authors
Twynam-Perkins, J.
Fall, A.
Lefferts, Juliet W
Urquhart, D. S.
Editors
Advisors
Supervisors
Document Type
Article
Metadata
Show full item recordCollections
License
taverne
Abstract
We present a challenging case that illustrates how the clinical manifestations in children with CFTR mutations of uncertain significance may change over time. This case highlights the evolution of confirming a diagnosis of CF and emphasises the importance of regular review and monitoring of this patient cohort.
Keywords
CFTR modulators, N = 1 clinical trials, Organoids, Taverne, Pediatrics, Perinatology, and Child Health, Pulmonary and Respiratory Medicine
Citation
Twynam-Perkins, J, Fall, A, Lefferts, J W & Urquhart, D S 2023, 'An innovative strategy for personalised medicine in a CFSPID case that evolved with time', Paediatric Respiratory Reviews, vol. 47, pp. 23-26. https://doi.org/10.1016/j.prrv.2023.06.001