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Figure 5 | Orphanet Journal of Rare Diseases

Figure 5

From: Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

Figure 5

Phenotype-genotype correlation in all described HHCS patients. Serum ferritin levels (y-axis) are reported against the position of the IRE mutation in FTL IRE (x-axis). Patients with mutations affecting the apical loop or the C-bulge area present higher serum ferritin levels compared to the ones with mutations in the upper or lower stems. *p < 0.05; **p < 0.01; ***p < 0.001.

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