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Article

Response to modulator therapy in a cystic fibrosis patient with a single identified CFTR variant not eligible for modulator treatment.

The Turkish journal of pediatrics - 27 Feb 2026

Ağırtıcı Mukaddes, Tekin Merve Nur, Bayav Secahattin, Olgun Esin Gizem, Küçük Öztürk Emine Semra, Çobanoğlu Nazan

Abstract excerpt

BACKGROUND: Cystic fibrosis (CF) is a multisystem disease caused by variants in the CF transmembrane conductance regulator (CFTR) gene affecting ion transport. CFTR modulator therapy has become a significant treatment option for many CF patients. However, access to modulator therapy remains a challenge for cases with rare variants. CASE PRESENTATION: Our 9-year-old female patient, diagnosed with CF by elevated...

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Identifiers

PMID: 41871565
DOI: 10.24953/turkjpediatr.2025.6369

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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