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

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.

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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 ...

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Item Type:Article
Date:2011
Institutions:Medicine > Lehrstuhl für Dermatologie und Venerologie
Identification Number:
ValueType
8239703PubMed ID
10.1186/1471-2350-12-79DOI
Classification:
NotationType
Epidermis/pathologyMESH
FemaleMESH
HumansMESH
MosaicismMESH
Mouth Mucosa/pathologyMESH
Mutation, Missense/geneticsMESH
Nevus/geneticsMESH
Receptor, Fibroblast Growth Factor, Type 3/geneticsMESH
Subjects:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Unknown
Owner: Universitätsbibliothek Regensburg
Deposited On:26 Sep 2011 09:37
Last Modified:13 Mar 2014 18:01
Item ID:22141
Owner Only: item control page
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