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Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation

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Bygum, Anette ; Fagerberg, Christina R. ; Clemmensen, Ole J. ; Fiebig, Britta ; Hafner, Christian
Date of publication of this fulltext: 26 Sep 2011 09:37


Our results show that activating FGFR3 mutations can also affect the oral mucosa and that extracutaneous manifestations of EN syndrome can be subtle. We highlight the theoretical risk of the patient having an offspring with thanatophoric dysplasia as gonadal mosaicism for the R248C mutation cannot be excluded.

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