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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.
Publication status:
Published

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Authors


Taylor, IB More by this author
Wilkie, AO More by this author
Journal:
The British journal of dermatology
Volume:
156
Issue:
6
Pages:
1353-1356
Publication date:
2007-06-05
DOI:
EISSN:
1365-2133
ISSN:
0007-0963
URN:
uuid:09a6eac0-47f1-4562-9909-da66634081e4
Source identifiers:
119720
Local pid:
pubs:119720

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