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

URN to cite this document:
urn:nbn:de:bvb:355-epub-221412
Bygum, Anette ; Fagerberg, Christina R. ; Clemmensen, Ole J. ; Fiebig, Britta ; Hafner, Christian
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Date of publication of this fulltext: 26 Sep 2011 09:37


Abstract

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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