Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects

J Invest Dermatol. 2007 Jul;127(7):1772-5. doi: 10.1038/sj.jid.5700766. Epub 2007 Mar 8.

Authors

Dedee F Murrell, Anna M G Pasmooij, Hendri H Pas, Penelope Marr, Sandra Klingberg, Ellen Pfendner, Jouni Uitto, Sara Sadowski, Felicity Collins, Richard Widmer, Marcel F Jonkman

PMID: 17344927
DOI: 10.1038/sj.jid.5700766

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Autoantigens / genetics*
Chromosome Mapping
Collagen Type XVII
Dental Enamel Hypoplasia / genetics*
Epidermolysis Bullosa, Junctional / diagnosis*
Epidermolysis Bullosa, Junctional / genetics*
Epidermolysis Bullosa, Junctional / immunology
Female
Fluorescent Antibody Technique
Heterozygote*
Humans
Infant, Newborn
Male
Mutation / genetics
Non-Fibrillar Collagens / genetics*
Pedigree
Retrospective Studies

Substances

Autoantigens
Non-Fibrillar Collagens