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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant

Fig. 2

Cilia-related phenotypes. a Top panel control fibroblasts. Middle and bottom panels, representative images of fibroblasts derived from patient. Cells were starved for 48 h. Centrioles and cilia were labeled with anti γ-tubulin (red) and ARL13B (green) antibodies, respectively. Hoechst labels nuclei (blue). Scale bar: 10 μm. b Histograms show the percentage of fibroblast cells with abnormal cilia/basal bodies/centrioles (top), the percentage of ciliated cells (middle), and the percentage of cells with centriolar abnormalities (bottom), in comparison with the normal control. ≥ 200 cells analyzed per sample. Data are expressed as mean values; error bars indicate the SEM. Paired Student’s t-test were applied. **p ≤ 0.01 ns = not significative

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