Article

Pathogenic variants identified by whole-exome sequencing in Chinese patients with primary ciliary dyskinesia

2021-04-09

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>The genetic factors contributing to primary ciliary dyskinesia (PCD), a rare autosomal recessive disorder, remain elusive for approximately 20–35% of patients with complex and abnormal clinical phenotypes. Our study aimed to identify causative variants of PCD-associated pathogenic candidate genes using whole-exome sequencing (WES). <bold>Methods: </bold>All pati...

Topics

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

Identifiers and source

Literature Corpus work: f0f9668f-d512-5ac2-b875-c95fd69925cd
DOI: 10.21203/rs.3.rs-403380/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pathogenic variants identified by whole-exome sequencing in Chinese patients with primary ciliary dyskinesiaDOI 10.21203/rs.3.rs-403380/v1Read

Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesiaSemantic proximity Read

Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia.Semantic proximity Read

Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.Semantic proximity Read

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia.Semantic proximity Read

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variantsSemantic proximity Read

Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.Semantic proximity Read

Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.Semantic proximity Read

A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.Semantic proximity Read

Novel Gene Variants Associated with Primary Ciliary Dyskinesia.Semantic proximity Read

Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.Semantic proximity Read

Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.Semantic proximity Read

Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.Semantic proximity Read