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Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.

The Journal of pediatrics - 1 Oct 2020

Guo Zhuoyao, Chen Weicheng, Wang Libo, Qian Liling

Abstract excerpt

OBJECTIVE: To report detailed knowledge about the clinical manifestations, ciliary phenotypes, genetic spectrum as well as phenotype/genotype correlation in primary ciliary dyskinesia (PCD) in Chinese children. STUDY DESIGN: We recruited 50 Chinese children with PCD. Extensive clinical assessments, nasal nitric oxide, high-speed video analysis, transmission electron microscopy, and genetic testing were performed...

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Abnormalities, Multiple
Child, Preschool
China
Cilia
Ciliary Motility Disorders

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Exome Sequencing

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PMID: 32502479
DOI: 10.1016/j.jpeds.2020.05.052

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