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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Autores principales:	Meihua Dong, Xu Shi, Yawen Zhou, Jielin Duan, Li He, Xiaonan Song, Zhiwen Huang, Ruchong Chen, Jing Li, Nan Jia
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2025-03-01
Colección:	Orphanet Journal of Rare Diseases
Materias:	Primary ciliary dyskinesia DNAH5 Genotype–phenotype correlation
Acceso en línea:	https://doi.org/10.1186/s13023-025-03596-5
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