Genetic spectrum and genotype–phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review

Abstract Background Primary ciliary dyskinesia (PCD), a rare ciliopathy disorder, is caused by variants in multiple genes, with DNAH5 being one of the most frequently implicated. However, the precise relationship between variant type or location in the DNAH5 gene and the clinical heterogeneity remai...

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Hlavní autoři:	Meihua Dong, Xu Shi, Yawen Zhou, Jielin Duan, Li He, Xiaonan Song, Zhiwen Huang, Ruchong Chen, Jing Li, Nan Jia
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2025-03-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Primary ciliary dyskinesia DNAH5 Genotype–phenotype correlation
On-line přístup:	https://doi.org/10.1186/s13023-025-03596-5
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