Bygum, Anette and Fagerberg, Christina R. and Clemmensen, Ole J. and Fiebig, Britta and Hafner, Christian (2011) Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation. BMC medical genetics 12, p. 79.
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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|Institutions:||Medicine > Lehrstuhl für Dermatologie und Venerologie|
|Dewey Decimal Classification:||600 Technology > 610 Medical sciences Medicine|
|Refereed:||Yes, this version has been refereed|
|Created at the University of Regensburg:||Unknown|
|Deposited on:||26 Sep 2011 09:37|
|Last modified:||13 Mar 2014 18:01|