title: Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation.
authors: Department of Dermatology, University of Montpellier I, Hôpital Saint-Eloi, CHU de Montpellier, 80, avenue Augustin Fliche, FR-34295 Montpellier, France. bessis.d@free.fr, d-bessis@chu-montpellier.fr, didierbessis@gmail.com.
authors: Didier
authors: D
authors: Bessis
authors: Julie
authors: J
authors: Plaisancié
authors: Véronique
authors: V
authors: Gaston
authors: Eric
authors: E
authors: Bieth
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009030:Mosaicism; D009154:Mutation; D009506:Nevus / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D010641:Phenotype; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D012867:Skin / Q000473:pathology; D013577:Syndrome; D016482:Urinalysis; D019459:Urothelium / Q000737:chemistry* / Q000473:pathology
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3