ArticleJournal of medical genetics2022
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.
Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.Asian journal of andrology · 2025Pooled it
- Review
- Distinct CFTR Mutation Spectrum and Atypical Clinical Presentations in Chinese Patients with Cystic Fibrosis.International journal of molecular sciences · 2026Review
- Genetic and clinical characteristics of pediatric patients with cystic fibrosis: a single-center retrospective study in China.Orphanet journal of rare diseases · 2026Article
- Case report end-stage cystic fibrosis with fatal outcome in two siblings from a Chinese family: a 15-year diagnostic odyssey.Frontiers in pharmacology · 2026Article
- Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.BMC pediatrics · 2025Article
- Compound Heterozygous Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation in An Adolescent Girl with Normal Sweat Chloride.Indian journal of pediatrics · 2025Article
- Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.JAMA internal medicine · 2025Article
- The CFTR K464N variant in fetuses potential increases premature birth risk in Chinese families.Human genomics · 2025Article
- Progression and mortality of patients with cystic fibrosis in China.Orphanet journal of rare diseases · 2025Article
- Cystic fibrosis caused by homozygousAmerican journal of translational research · 2025Article
- Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.Pediatric pulmonology · 2024Article
- [Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesCystic fibrosis (CF) is a heterogeneous disease with a diverse genetic spectrum among populations. Few patients with CF of Chinese origin have been reported worldwide. The objective of this study is to characterise the genotypic features of CF in Chinese children.
methodsWe recruited and characterised the genetic manifestations of 103 Chinese children with CF in Beijing Children's Hospital from 2010 to 2022. Whole-exome sequencing were performed to define the genotypes. Meanwhile, other 99 genetically confirmed patients with Chinese origin described in 45 references were also summarised.
results158 different variants including 23 novel observations were identified after sequencing. The majority of
conclusionsThe genetic spectrum of CF in Chinese is unique and quite different from that observed in Caucasians. The geographical distributions of the most frequent variants were reported for the first time.
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