title: Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism.
abstract: 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.
authors: Birmingham Children's Hospital, Birmingham B4 6NL, UK. bethcollin@hotmail.com
authors: B
authors: B
authors: Collin
authors: I B
authors: IB
authors: Taylor
authors: A O M
authors: AO
authors: Wilkie
authors: C
authors: C
authors: Moss
mesh_terms: D002648:Child; D003398:Craniosynostoses / Q000235:genetics; D005146:Facial Asymmetry / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism; D009508:Nevus, Pigmented / Q000235:genetics*; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
chemical_list: D051498:Receptor, Fibroblast Growth Factor, Type 3