Article

Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel mutation of DNAAF2

2022-05-02

Abstract excerpt

<h4>Objective: </h4> : To investigate the clinical manifestations, diagnosis and treatment processes of two siblings with PCD caused by the same compound heterozygous mutations in DNAAF2. <h4>Methods: </h4> : With clinical diagnosis of PCD, the two siblings were recruited in the study. We collected their clinical histories, laboratory tests, bronchoscopy, otoscope images, and radiographic data. Whole blood of the...

Topics

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

Identifiers and source

Literature Corpus work: 8205c9e4-bcac-53ef-9fa7-df9358c563bb
DOI: 10.22541/au.165148926.65947863/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel mutation of DNAAF2DOI 10.22541/au.165148926.65947863/v1Read

Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.Semantic proximity Read

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

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

Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysisSemantic proximity Read

An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.Semantic proximity Read

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment StrategiesSemantic proximity Read

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

Clinical phenotypes of primary ciliary dyskinesia.Semantic proximity Read

Clinical manifestations and genotype of primary ciliary dyskinesia diagnosed in Korea: a nationwide, multicenter, retrospective studySemantic proximity Read

Diagnosis and management of primary ciliary dyskinesiaSemantic proximity Read

Exploring Rare Genetic Mutations in PCD: A Study of 8 Turkish Patients with Novel Gene Alterations Coupled by Their Ciliary Beat Frequency and Confocal Microscopy AnalysesSemantic proximity Read

Primary ciliary dyskinesia (PCD): A genetic disorder of motile ciliaSemantic proximity Read