The Journal of pediatrics
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The Journal of pediatrics · Oct 2020
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
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. ⋯ This large PCD cohort in China broadens the clinical, ciliary phenotypes, and genetic characteristics of children with PCD. Our findings are roughly consistent with previous studies besides some peculiarities such as high prevalence of associated abnormalities.