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Clinical exome sequencing uncovers genetic diversity in hyperferritinemia, indicating the need for reevaluation of diagnostic criteria.
CES reveals genetic heterogeneity beyond the traditional Mendelian framework, with frequent non-HFE gene involvement and digenic inheritance and should be considered after exclusion of HFE p.Cys282Tyr homozygosity.
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Morel et al. (2026) studied this question.
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