Case Report: Identification of a novel hemizygous CFAP47 variant in a primary ciliary dyskinesia patient with dual ciliary and flagellar defects

Case Report: Identification of a novel hemizygous CFAP47 variant in a primary ciliary dyskinesia patient with dual ciliary and flagellar defects

BackgroundPrimary ciliary dyskinesia (PCD) is a genetically heterogeneous ciliopathy caused by structural and functional abnormalities of motile cilia. Although over 50 PCD-associated genes have been reported, the genetic spectrum remains incomplete. CFAP47, a gene linked to multiple morphological a...

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Bibliographic Details
Main Authors: Miao He, Wangji Zhou, Yixuan Li, Qiaoling Chen, Yaping Liu, Xinlun Tian, Xue Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Medicine
Subjects:
CFAP47
variant pathogenicity
primary ciliary dyskinesia
cilia
genetic testing
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2025.1574684/full
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