Genetic Variants and Clinical Characteristics in the Diagnosis of Children Aged Under 18 Years With Cystic Fibrosis in a Brazilian State
Identification of CFTR variants at diagnosis can provide many benefits to patients, such as early interventions and CFTR modulator therapy, and is feasible in Brazil. Because each country may have different distributions of CFTR variants, it is essential to evaluate these distributions as we advance methodologies for gene variant detection, particularly in the contexts of newborn screening and diagnostic testing.
Authors
- Gina Torres Rego Monteiro (ORCID: https://orcid.org/0000-0002-9900-1825)
- Luana da Silva Baptista Arpini (ORCID: https://orcid.org/0000-0002-7989-6895)
- Fernanda Mayrink Gonçalves Liberato (ORCID: https://orcid.org/0000-0001-5227-2022)
- Flávia Marini Paro (ORCID: https://orcid.org/0000-0003-1715-3778)
- Sabrina da Silva Santos (ORCID: https://orcid.org/0000-0001-8327-3546)
Institutions
- Escola Nacional de Saúde Pública (BR)
- Universidade Federal do Espírito Santo (BR)
- Fundação Oswaldo Cruz (BR)
Publication Details
- Journal
- Pediatric Pulmonology
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1002/ppul.71048
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00