Case Reports in Pediatrics / 2013 / Article / Fig 2

Case Report

The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families

Figure 2

Pedigree of the second family with the presence of hyperferritinemia and cataract, because of the C29G mutation of the L-ferritin IRE region and H63D mutation of HFE gene. Black circles (female subjects) and squares (male subjects) indicated affected individuals (II: 1; III: 2; IV: 2) with early onset of cataract and hyperferritinemia; *members heterozygous for C29G IRE mutation. The others were unavailable for mutational analyses.

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