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doi: 10.1007/s11095-008-9643-y

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Recruiting newborns from 98 hospitals across different regions, this study estimated that the prevalence of PCD in the Chinese population was 1:17,456, which is similar to the prevalence recently reported in Ningbo (1:16,595) ( The genotype–phenotype correlation suggests that frameshift and nonsense variants are more likely to be associated with cardiomyopathy, which is the main phenotype of PCD, whereas missense variants are more common in asymptomatic individuals