Diverse clinical manifestations of porokeratosis caused by somatic variants and promoter hypermethylation of FDFT1
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ID: 318012
2026
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Abstract
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.
| Reference Key |
openalex_W7165118607
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|---|---|
| Authors | Maho Matsuo, Hiroyuki Ikehata, Xiaoyu Zang, Kayoko Tanaka, Satoru Shinkuma, Ken Natsuga, Hiroaki Iwata |
| Journal | the british journal of dermatology |
| Year | 2026 |
| DOI |
10.1093/bjd/ljag255
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| URL | |
| Keywords | Keywords not found |
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