Oral manifestations as the main feature of late-onset recessive dystrophic epidermolysis bullosa

J Eur Acad Dermatol Venereol. 2018 Apr;32(4):e161-e163. doi: 10.1111/jdv.14663. Epub 2017 Nov 22.

Authors

F Schauer¹, J Hoffmann¹, J Fischer², C Has¹

Affiliations

¹ Faculty of Medicine, Department of Dermatology, Medical Center, University of Freiburg, Freiburg im Breisgau, Germany.
² Faculty of Medicine, Department of Human Genetics, Medical Center, University of Freiburg, Freiburg im Breisgau, Germany.

PMID: 29080321
DOI: 10.1111/jdv.14663

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Age of Onset
Amino Acid Sequence
Animals
Collagen Type VII / genetics
Epidermolysis Bullosa Dystrophica / complications
Epidermolysis Bullosa Dystrophica / genetics*
Epidermolysis Bullosa Dystrophica / pathology*
Female
Genes, Recessive
Humans
Middle Aged
Mouth Diseases / complications*
Mutation
Sequence Homology, Amino Acid

Substances

COL7A1 protein, human
Collagen Type VII