Table 1

Results of genetic analysis

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


EN, epidermal nevus; FGFR3, Fibroblast Growth Factor Receptor 3; PIK3CA, Phosphatidylinositol 3-kinase Catalytic 110 kD Alpha subunit; wt, wildtype; na, not available.

Bygum et al. BMC Medical Genetics 2011 12:79   doi:10.1186/1471-2350-12-79

Open Data