title: Late-onset skin fragility in childhood: a case of junctional epidermolysis bullosa of late onset caused by a missense mutation in COL17A1.
authors.affiliation: Department of Dermatology, CHU Nice, Nice, France.
authors.forename: S
authors.initials: S
authors.lastname: Vanotti
authors.forename: C
authors.initials: C
authors.lastname: Chiaverini
authors.forename: A
authors.initials: A
authors.lastname: Charlesworth
authors.forename: N
authors.initials: N
authors.lastname: Bonnet
authors.forename: P
authors.initials: P
authors.lastname: Berbis
authors.forename: G
authors.initials: G
authors.lastname: Meneguzzi
authors.forename: J-P
authors.initials: JP
authors.lastname: Lacour
mesh_terms: D000293:Adolescent; D001324:Autoantigens / Q000235:genetics*; D001768:Blister / Q000235:genetics; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D024041:Non-Fibrillar Collagens / Q000235:genetics*; D000097805:Collagen Type XVII
chemical_list: D001324:Autoantigens; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII