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Author

Ya Dao

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Case report Open access Jul 2026

Case Report: Congenital pulmonary airway malformation associated with a germline DICER1 splicing variant

The view that DICER1-associated CPAM IV may represent an early stage within the PPB disease spectrum is supported, and DICER1 genetic testing could be considered for selected pediatric patients diagnosed with CPAM IV, regardless of family history.

Ya Dao, Shan Pei, Xi-Chen Zhang et al. · 0 citations
Open access Jul 2026

Estimation of the genetic susceptibility prevalence of primary ciliary dyskinesia via the gnomAD v4.1.0 database.

The estimated global genetic susceptibility prevalence of primary ciliary dyskinesia is approximately 1 in 20,103, with an overall carrier frequency of 1 in 25, indicating significant heterogeneity among ethnic populations.

Ru-Tao Dai, Ya Dao, Xi-Chen Zhang et al. · 0 citations

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