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Article

Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.

BMC pediatrics - 2 Oct 2025

Bu Huaqin, Yang Tian, Li Jia, Gong Ting, Lu Shuya, Zhao Dandong, Wang Donghai, Dai Jihong, Yan Li, Li Ying, Tian Daiyin

Abstract excerpt

OBJECTIVE: This study aimed to summarize and analyze the clinical and genetic characteristics of diseases caused by cystic fibrosis transmembrane conduction regulator (CFTR) gene mutations in Chinese children and to improve our understanding of cystic fibrosis (CF). METHODS: We retrospectively analyzed the clinical data of 15 children with CFTR mutations who were admitted to Children’s Hospital of Chongqing...

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Identifiers

PMID: 41039378
DOI: 10.1186/s12887-025-06040-6
PMCID: PMC12492759

Genes

CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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