Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism.
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 specula...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
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2007
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| _version_ | 1826258249440034816 |
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| author | Collin, B Taylor, I Wilkie, A Moss, C |
| author_facet | Collin, B Taylor, I Wilkie, A Moss, C |
| author_sort | Collin, B |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-06T18:30:59Z |
| format | Journal article |
| id | oxford-uuid:09a6eac0-47f1-4562-9909-da66634081e4 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T18:30:59Z |
| publishDate | 2007 |
| record_format | dspace |
| spelling | oxford-uuid:09a6eac0-47f1-4562-9909-da66634081e42022-03-26T09:19:31ZFibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:09a6eac0-47f1-4562-9909-da66634081e4EnglishSymplectic Elements at Oxford2007Collin, BTaylor, IWilkie, AMoss, CWe 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. |
| spellingShingle | Collin, B Taylor, I Wilkie, A Moss, C Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism. |
| title | Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism. |
| title_full | Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism. |
| title_fullStr | Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism. |
| title_full_unstemmed | Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism. |
| title_short | Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism. |
| title_sort | fibroblast growth factor receptor 3 fgfr3 mutation in a verrucous epidermal naevus associated with mild facial dysmorphism |
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