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

Orphanet journal of rare diseases - 1 Jul 2021

Zhao Xinyue, Bian Chun, Liu Keqiang, Xu Wenshuai, Liu Yaping, Tian Xinlun, Bai Jing, Xu Kai-Feng, Zhang Xue

Abstract excerpt

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 methods for diagnosis, such as nasal nitric oxide measurement and digital high-speed video microscopy with ciliary beat pattern...

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China
Cilia
Ciliary Motility Disorders
DNA Copy Number Variations
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kartagener Syndrome

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PMID: 34210339
DOI: 10.1186/s13023-021-01840-2
PMCID: PMC8252271

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