A Novel Potentially Pathogenic DNAH5 Variant in a Patient with Kartagener’s Syndrome from Ardabil Province: A Case Report

A Novel Potentially Pathogenic DNAH5 Variant in a Patient with Kartagener’s Syndrome from Ardabil Province: A Case Report

Kartagener's syndrome is a rare autosomal recessive genetic disorder characterized by a clinical triad: chronic sinusitis, bronchiectasis, and situs inversus. This triad includes persistent inflammation of the sinuses, abnormal dilation of the bronchi, and a mirror-image arrangement of internal...

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Bibliographic Details
Main Authors: Atabak Sedigh-Namin, Rasoul Molatefi, Mehran Asayeshi, Effat Sayyedhashemi, Seyed Saied Hosseini-Asl
Format: Article
Language:English
Published: Mazandaran University of Medical Sciences 2025-05-01
Series:Journal of Mazandaran University of Medical Sciences
Subjects:
kartagener’s syndrome
mutation
dnah5
whole-exome sequencing
Online Access:http://jmums.mazums.ac.ir/article-1-21564-en.pdf
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http://jmums.mazums.ac.ir/article-1-21564-en.pdf

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