# From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response

**Authors:** Alexandra Carla Bobica, Sarah Moussa, Lydia Ouchene, Megha Udupa, Hessah BinJadeed, Rahaf Bashihab, Zuzanna Misiewicz, Laura Grönroos, Julie Powell, May Chergui, Tania Cruz Marino, William D. Foulkes, Elena Netchiporouk

PMC · DOI: 10.1016/j.jdin.2025.09.006 · 2025-10-01

## Full-text entities

- **Genes:** KRT2 (keratin 2) [NCBI Gene 3849] {aka CK-2e, K2e, KRT2A, KRT2E, KRTE}
- **Diseases:** epidermolytic ichthyosis (MESH:D017488)
- **Chemicals:** retinoid (MESH:D012176)

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12615286/full.md

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Source: https://tomesphere.com/paper/PMC12615286