Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.
Murrell
Dedee F
DF
Pasmooij
Anna M G
AM
Pas
Hendri H
HH
Marr
Penelope
P
Klingberg
Sandra
S
Pfendner
Ellen
E
Uitto
Jouni
J
Sadowski
Sara
S
Collins
Felicity
F
Widmer
Richard
R
Jonkman
Marcel F
MF
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
D001324:Autoantigens; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII