Author

Kai Chen

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Open access Jul 2026

Biallelic RSPH4A loss-of-function variants cause primary ciliary dyskinesia in a Chinese patient

This study identifies novel loss-of-function RSPH4A variants causing PCD through distinct molecular mechanisms, expanding the mutational spectrum of radial spoke head protein-related ciliopathies.

Yuting Lu, Hui-Yan Tang, Kai Chen et al. · Frontiers in Genetics · 0 citations