Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report

Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder characterized by dysfunctional motile cilia, with or without detectable ultrastructural abnormalities. This study focuses on a homozygous mutation in the rare radial spoke head component 4A (RSPH4A) gene in a Chinese adole...

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Bibliographic Details

Published in:	Frontiers in Pediatrics
Main Authors:	Wanting Xu, Yan Yang, Lan Kang, Ling Guo, Jing Liu, Yan Zeng, Lei Li, Ai Chen, Rong Zhang, Wenbin Dong
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-08-01
Subjects:	adolescent patient primary ciliary dyskinesia homozygous mutations RSPH4A case report
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2025.1630730/full