# Novel variant c.7795-1G>A of COL7A1 gene in a 12-month-old female child with recessive dystrophic epidermolysis bullosa treated with dupilumab

**Authors:** Francesca Caroppo, Fortunato Cassalia, Elisa Milan, Anna Belloni Fortina

PMC · DOI: 10.1016/j.jdcr.2024.06.003 · JAAD Case Reports · 2024-06-09

## Full-text entities

- **Genes:** COL7A1 (collagen type VII alpha 1 chain) [NCBI Gene 1294] {aka EBD1, EBDCT, EBR1, NDNC8}
- **Diseases:** recessive dystrophic epidermolysis bullosa (MESH:D016108)
- **Mutations:** c.7795-1G>A

## Full text

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## References

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Source: https://tomesphere.com/paper/PMC11276923