Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

Abstract Background Primary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic disorder involving the impairment of motile cilia. With no single gold standard for PCD diagnosis and complicated multiorgan dysfunction, the diagnosis of PCD can be difficult in clinical settings. Some meth...

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Bibliographic Details
Main Authors: Xinyue Zhao, Chun Bian, Keqiang Liu, Wenshuai Xu, Yaping Liu, Xinlun Tian, Jing Bai, Kai-Feng Xu, Xue Zhang
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Primary ciliary dyskinesia
Clinical characteristics
Genetic spectrum
Chinese origin
Online Access:https://doi.org/10.1186/s13023-021-01840-2

Internet

https://doi.org/10.1186/s13023-021-01840-2

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