title: Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.
authors.forename: Dedee F
authors.initials: DF
authors.lastname: Murrell
authors.forename: Anna M G
authors.initials: AM
authors.lastname: Pasmooij
authors.forename: Hendri H
authors.initials: HH
authors.lastname: Pas
authors.forename: Penelope
authors.initials: P
authors.lastname: Marr
authors.forename: Sandra
authors.initials: S
authors.lastname: Klingberg
authors.forename: Ellen
authors.initials: E
authors.lastname: Pfendner
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
authors.forename: Sara
authors.initials: S
authors.lastname: Sadowski
authors.forename: Felicity
authors.initials: F
authors.lastname: Collins
authors.forename: Richard
authors.initials: R
authors.lastname: Widmer
authors.forename: Marcel F
authors.initials: MF
authors.lastname: Jonkman
mesh_terms: D001324:Autoantigens / Q000235:genetics*; D002874:Chromosome Mapping; D003744:Dental Enamel Hypoplasia / Q000235:genetics*; D016109:Epidermolysis Bullosa, Junctional / Q000175:diagnosis* / Q000235:genetics* / Q000276:immunology; D005260:Female; D005455:Fluorescent Antibody Technique; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D024041:Non-Fibrillar Collagens / Q000235:genetics*; D010375:Pedigree; D012189:Retrospective Studies; D000097805:Collagen Type XVII
chemical_list: D001324:Autoantigens; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII