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. 2020 Jan 9;106(3):913–917. doi: 10.3324/haematol.2019.228270

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Copyright© 2021 Ferrata Storti Foundation

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Figure 2. — The pedigree of a family with congenital erythropoietic porphyria and biological parameters at diagnosis. (A) The family pedigree showing three of four siblings diagnosed with congenital erythropoietic porphyria (M: UROS c.660+4delA, +: wild-type allele). Genetic testing confirmed the diagnosis: patients II1, II3 and II4 are homozygous for the UROS mutation c.660+4delA, previously reported.6 (B) The siblings’ laboratory values at diagnosis. CRP: C-reactive protein; UROS: uroporphyrinogen III synthase; Zn: zinc; ND: not determined. NA: not applicable.