Case report reveals diverse manifestations of porokeratosis linked to FDFT1 alterations, suggesting new insights into its molecular mechanisms.
A man with porokeratosis in whom both somatic FDFT1 splice-site mutations and promoter hypermethylation contributed to disease development. The phenotypic diversity associated with FDFT1 alterations provides novel insight into the molecular pathogenesis of porokeratosis.
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Matsuo et al. (2026) studied this question.
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