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Article

A missed cystic fibrosis diagnosis in childhood.

Allergy and asthma proceedings - 1 Jan 2000

Leonardi Salvatore, Sciuto Concetta, La Rosa Mario

Abstract excerpt

We describe a suggestive case of cystic fibrosis (CF) with a CF transmembrane conductance regulator (CFTR) mutation compatible with survival in which the diagnosis was missed in childhood. A 46-year-old man presented to our pediatric hospital with infertility and chronic cough, which had been present since 7 years of age. History was notable for high transaminase levels, hepatic steatosis sinusitis, chronic...

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Source

Identifiers

PMID: 16541975

Genes

CFTR
FEV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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