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Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD.

Molecular genetics & genomic medicine - 1 Jan 2024

Ge Haijun, Zhou Wangji, He Miao, Zheng Haixia, Zhao Xinyue, Zhang Ting, Zhang Ying, Shao Chi, Cheng Chongsheng, Liu Yaping, Tian Xinlun, Xu Kai-Feng, Zhang Xue

Abstract excerpt

BACKGROUND: Primary ciliary dyskinesia (PCD) is a genetic ciliopathy characterized by dysfunction of motile cilia. Currently, approximately 50 causative genes accounting for 60%-70% of all PCD cases have been identified in PCD-affected individuals, but the etiology in approximately 30%-40% of PCD cases remains unknown. METHODS: We analyzed the clinical and genetic data of two PCD individuals who were suspected of...

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PMID: 37723893
DOI: 10.1002/mgg3.2278
PMCID: PMC10767284

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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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