Novel variant c.7795-1G>A of COL7A1 gene in a 12-month-old female child with recessive dystrophic epidermolysis bullosa treated with dupilumab.
Overview publication
| Title | Novel variant c.7795-1G>A of COL7A1 gene in a 12-month-old female child with recessive dystrophic epidermolysis bullosa treated with dupilumab. |
| Date | 2024-08-01 |
| Issue name | JAAD case reports |
| Issue number | v50:79-81 |
| DOI | 10.1016/j.jdcr.2024.06.003 |
| PubMed | 39070923 |
| Authors | |
| Keywords | DEB, EB, congenital diseases, dystrophic epidermolysis bullosa, epidermolysis bullosa, genetic diseases, mutation, rare skin diseases |
| Read | Read publication |