Analysis of clinical and genetic features in a pediatric patient with Kartagener syndrome caused by compound heterozygous mutations in the DNAH5 gene: a case study and literature review

Analysis of clinical and genetic features in a pediatric patient with Kartagener syndrome caused by compound heterozygous mutations in the DNAH5 gene: a case study and literature review

Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is a rare genetic disorder characterized by situs inversus, chronic sinusitis, bronchiectasis, recurrent respiratory infections, and impaired ciliary function. It is diagnosed through physical examination, imaging techniques su...

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Bibliographic Details
Main Authors: Jingli Zhang, Longfei Gao, Yu Xing, HuiFang Wu, Xiaojuan Liu, Yingqian Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Medicine
Subjects:
primary ciliary dyskinesia
Kartagener syndrome
ciliary function
situs inversus
genetic mutations
DNAH5
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2025.1513370/full
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https://www.frontiersin.org/articles/10.3389/fmed.2025.1513370/full

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