Fig 1: IFT121 mutations cause similar SRPS phenotype. a Radiographic findings in R03-342A with short, narrow bent ribs, a bell-shaped chest, curved humeri with short bent radii and ulnae. b R10-483 showed similar findings in thorax and extremities. c–e Patients (two independent cases) with mutations in IFT121 showed reduced IFT43 and similar levels of IFT144 (N = 3). f–h Both R03-342A and R10-483A showed a reduction in number of cilia (f) and length (g–h). ARL13B (green) and Ac-Tub (red) staining of the cilia in control and R03-121A fibroblasts. Pericentrin (green) staining was used to mark the centrosome. Nuclei in blue