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We report an activating fibroblast growth factor receptor 3 (FGFR3) mutation (R248C) occurring in a verrucous epidermal naevus, and not found in other tissues, in a girl with mild facial dysmorphism. We demonstrate the presence of the mutation in keratinocytes cultured from the naevus and we speculate that a low level of the mutation in other tissues may account for her facial dysmorphism. The possibility that the mutation is present in other tissues implies a possible risk to her future offspring.

Original publication

DOI

10.1111/j.1365-2133.2007.07869.x

Type

Journal article

Journal

Br J Dermatol

Publication Date

06/2007

Volume

156

Pages

1353 - 1356

Keywords

Child, Craniosynostoses, Facial Asymmetry, Female, Humans, Mosaicism, Nevus, Pigmented, Receptor, Fibroblast Growth Factor, Type 3