Autor: Yu-Ting Lu
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Biallelic RSPH4A loss-of-function variants cause primary ciliary dyskinesia in a Chinese patient
BackgroundPrimary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by defective motile cilia function, affecting approximately one in 7,500 to one in 10,000 live births. Pathogenic variants in radial spoke head genes, inclu…