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p.R587C Allele Found in R01-314 Produces Abnormal Primary Cilia in Chondrocytes
(A) Cilia visualized by scanning electron microscopy showed normally shaped cilia in control chondrocytes. The boxed area is shown at higher magnification in (C). (B) Cilia present on chondrocytes from case R01-314B were short and had an abnormal bulge at the tip of the axoneme. The boxed area is shown at higher magnification in (D).
