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- URN zum Zitieren dieses Dokuments:
- urn:nbn:de:bvb:355-epub-221412
- DOI zum Zitieren dieses Dokuments:
- 10.5283/epub.22141
Zusammenfassung
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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