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...

詳細記述

書誌詳細

主要な著者:	Meihua Dong, Xu Shi, Yawen Zhou, Jielin Duan, Li He, Xiaonan Song, Zhiwen Huang, Ruchong Chen, Jing Li, Nan Jia
フォーマット:	Artigo
言語:	Inglês
出版事項:	BMC 2025-03-01
シリーズ:	Orphanet Journal of Rare Diseases
主題:	Primary ciliary dyskinesia DNAH5 Genotype–phenotype correlation
オンライン･アクセス:	https://doi.org/10.1186/s13023-025-03596-5
タグ:	タグ追加 タグなし, このレコードへの初めてのタグを付けませんか!