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Article

Diagnosis of atypical CF: a case-report to reflect.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2008

Alghisi F, Angioni A, Tomaiuolo A C, D'Apice M R, Bella S, Novelli G, Lucidi V

Abstract excerpt

Non-classic Cystic Fibrosis (CF) still represents a difficult entity to diagnose. We present a case of two sisters affected by mild pulmonary symptoms started at puberty, carriers of the F508del mutation associated with the T5TG13 combination. We discuss the clinical utility of TG repeat testing in individuals carrying the T5 variant. Furthermore, this case-report leads to reflect on the natural history of CF and...

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Identifiers

PMID: 18180206
DOI: 10.1016/j.jcf.2007.11.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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