title: De novo splice mutation in the versican gene in a family with Wagner syndrome.
authors.forename: Pierre-Raphaël
authors.initials: PR
authors.lastname: Rothschild
authors.forename: Isabelle
authors.initials: I
authors.lastname: Audo
authors.forename: Brigitte
authors.initials: B
authors.lastname: Nedelec
authors.forename: Tiffany
authors.initials: T
authors.lastname: Ghiotti
authors.forename: Antoine P
authors.initials: AP
authors.lastname: Brézin
authors.forename: Claire
authors.initials: C
authors.lastname: Monin
authors.forename: Sophie
authors.initials: S
authors.lastname: Valleix
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003941:Diagnostic Techniques, Ophthalmological; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D053675:Versicans / Q000235:genetics* / Q000172:deficiency
chemical_list: C508322:VCAN protein, human; D053675:Versicans