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Article

Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.

BMC pulmonary medicine - 14 Aug 2021

Wang Lina, Zhao Xin, Liang Hang, Zhang Li, Li Chunyan, Li Deli, Meng Xiangfeng, Meng Fanzheng, Gao Mao

Abstract excerpt

BACKGROUND: Kartagener syndrome is a subtype of primary ciliary dyskinesia that may exhibit various symptoms including neonatal respiratory distress and frequent infections of the lung, sinus and middle ear because of the impaired function of motile cilia. In addition to typical symptoms of primary ciliary dyskinesia, patients with Kartagener syndrome also show situs inversus. It is an autosomal recessive...

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Identifiers

PMID: 34391405
DOI: 10.1186/s12890-021-01586-4
PMCID: PMC8364053

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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