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Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.

Bioscience reports - 26 Jun 2020

Deng Sheng, Wu Shan, Xia Hong, Xiong Wei, Deng Xiong, Liao Junxi, Deng Hao, Yuan Lamei

Abstract excerpt

Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been reported. As of this writing [late 2020], at least 34 loci, most of which have known genes, have been reported in...

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PMID: 32490514
DOI: 10.1042/BSR20192510
PMCID: PMC7298131

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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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