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Table 1 Results of genetic analysis

From: Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3mutation

Sample Localization FGFR3 PIK3CA
1 EN Trunk R248C wt
2 EN Trunk R248C wt
3 Adjacent normal skin Trunk wt wt
4 Cultured fibroblasts (EN tissue) Trunk wt wt
5 Cultured fibroblasts (normal skin) Trunk wt wt
6 Hair roots Scalp wt na
7 Intraoral EN Buccal mucosa R248C na
8 Urothelial cells Urine sediment wt na
9 Leukocytes Blood R248C/wt wt
  1. EN, epidermal nevus; FGFR3, Fibroblast Growth Factor Receptor 3; PIK3CA, Phosphatidylinositol 3-kinase Catalytic 110 kD Alpha subunit; wt, wildtype; na, not available.