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Article

An innovative strategy for personalised medicine in a CFSPID case that evolved with time.

Paediatric respiratory reviews - 1 Sept 2023

Twynam-Perkins J, Fall A, Lefferts J W, Urquhart D S

Abstract excerpt

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.

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Identifiers

PMID: 37407313
DOI: 10.1016/j.prrv.2023.06.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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