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Article

Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Aug 2006

Castaldo Giuseppe, Tomaiuolo Rossella, Vanacore Borghina, Ferrara Pietro, DEL Vecchio Stefania, Carnovale Vincenzo, Abete Pasquale, Rengo Franco, Salvatore Francesco

Abstract excerpt

We report an example of atypical CF, i.e., a family in which three siblings were affected by late-diagnosed mild CF, and showed discordant pulmonary and pancreatic phenotypes. Sibling no. 1 (male), showed a severe pulmonary involvement and pancreatic sufficiency; sibling no. 2 (female) showed a mild pulmonary disease with pancreatic sufficiency; sibling no. 3 (male) had a very mild pulmonary expression and...

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Source

Identifiers

PMID: 16478680
DOI: 10.1016/j.jcf.2005.12.001

Genes

CFTR

Provenance

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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