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Updated: Oct 1, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
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Published on: January 19, 2022

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Novel Gene Variants Associated with Primary Ciliary Dyskinesia

Durkadin Demir Eksi1,2, Elanur Yilmaz3,4, A Erdem Basaran5

  • 1Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, Antalya, 07070, Turkey. durkadin.eksi@alanya.edu.tr.

Indian Journal of Pediatrics
|March 3, 2022
PubMed
Summary

Genetic testing identified disease-causing variants in eight genes in 52.4% of Turkish Caucasian primary ciliary dyskinesia (PCD) cases. Novel variations were found, highlighting the need for advanced genetic diagnostics in PCD.

Keywords:
Ciliary diseasesMutation analysisPrimary ciliary dyskinesiaTargeted next-generation sequencing

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