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Article

Pitfall in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis.

Pediatrics - 1 Apr 1999

Chmiel J F, Drumm M L, Konstan M W, Ferkol T W, Kercsmar C M

Abstract excerpt

In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, DeltaF508 and R117H. The diagnosis of CF adversely affected the family's emotional, employment, and financial...

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Source

Identifiers

PMID: 10103316
DOI: 10.1542/peds.103.4.823

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10103316-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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