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Article

Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population.

BMC pediatrics - 1 Jul 2024

Meneses Daniela Gois, Dos Santos Fábia Regina, Botelho Anne Jardim, Bispo Luciana Mota, Matos Camilla Guerra, Propheta Vynicius Goltran Sobral, Rodrigues Alexia Ferreira, Oliveira Géssica Uruga, da Silva Angela Maria, Gurgel Ricardo Queiroz

Abstract excerpt

INTRODUCTION: In highly multiracial populations with inadequate newborn screening, knowledge of the various phenotypic presentations of Cystic Fibrosis (CF) can help reach an early diagnosis. This study aims to describe phenotypes and genotypes at the time of CF diagnosis in a state in the Northeast Region of Brazil. METHODS: Retrospective cross-sectional study. Clinical data were extracted from the medical...

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Identifiers

PMID: 38956483
DOI: 10.1186/s12887-024-04891-z
PMCID: PMC11218259

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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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