Article
Genetic and clinical characteristics of pediatric patients with cystic fibrosis: a single-center retrospective study in China.
Orphanet journal of rare diseases - 10 Mar 2026
Liu Jinrong, Ma Lanhong, Yu Weijian, Zhou Jin, Zhou Guanghua, Tuhongjiang Yilijang, Maitusong Gulimire, Wang Ziwei, Aizeze Shapaguli, Tian Dianhui, Zhang Xiaoyan, Yang Haiming
Abstract excerpt
BACKGROUND: Despite the increasing recognition of cystic fibrosis (CF) in China, few cases have been reported in the Xinjiang Uyghur Autonomous Region (Xinjiang), which is located in China’s northwest with a diverse ethnic composition. This study aimed to describe the genotype and clinical phenotype of children with CF in Xinjiang. METHODS: We recruited children diagnosed with CF at the Children’s Hospital of...
Topics
- Humans
- Cystic Fibrosis
- Child
- Female
- Male
- Retrospective Studies
- Cystic Fibrosis Transmembrane Conductance Regulator
- China
- Mutation
- Child, Preschool