Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation

Acta Derm Venereol. 2017 Mar 10;97(3):402-403. doi: 10.2340/00015555-2554.

Authors

Didier Bessis¹, Julie Plaisancié, Véronique Gaston, Eric Bieth

Affiliation

¹ Department of Dermatology, University of Montpellier I, Hôpital Saint-Eloi, CHU de Montpellier, 80, avenue Augustin Fliche, FR-34295 Montpellier, France. [email protected], [email protected], [email protected].

PMID: 27786351
DOI: 10.2340/00015555-2554

No abstract available

Publication types

Case Reports

MeSH terms

Child, Preschool
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Humans
Mosaicism*
Mutation*
Nevus / diagnosis
Nevus / genetics*
Nevus / urine
Phenotype
Receptor, Fibroblast Growth Factor, Type 3 / genetics*
Skin / pathology
Syndrome
Urinalysis
Urothelium / chemistry*
Urothelium / pathology

Substances

FGFR3 protein, human
Receptor, Fibroblast Growth Factor, Type 3

Supplementary concepts

Epidermal Nevus