Article

Meconium thorax observed in a Chinese neonate with cystic fibrosis

2023-03-30

Abstract excerpt

CF is considered a rare disease among the non-Caucasian population. The clinical phenotypes and genotypic spectrum of Chinese CF patients are reported to be different from that observed in Caucasians[(1)](#ref-0001). Our patient carried compound heterozygous mutations which are not included in the Caucasian CFTR common mutation-screening panel and have not been reported yet. CFTR dysfunction causes a spectrum of d...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 53d94388-240a-538d-b48b-d5dab9072182
DOI: 10.22541/au.168017416.60603233/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Meconium thorax observed in a Chinese neonate with cystic fibrosisDOI 10.22541/au.168017416.60603233/v1Read

Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported casesSemantic proximity Read

Four case reports of Chinese cystic fibrosis patients and literature review.Semantic proximity Read

Distinct CFTR Mutation Spectrum and Atypical Clinical Presentations in Chinese Patients with Cystic Fibrosis.Semantic proximity Read

Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children.Semantic proximity Read

Cystic Fibrosis Diagnosis and Newborn Screening.Semantic proximity Read

[Molecular diagnosis of two Chinese cystic fibrosis children and literature review].Semantic proximity Read

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosisSemantic proximity Read

Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis.Semantic proximity Read

Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.Semantic proximity Read

Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report.Semantic proximity Read

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.Semantic proximity Read

Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.Semantic proximity Read