Search
epidermolysis bullosa dystrophica, Bart syndrome type (epidermolysis bullosa with congenital localized absence of skin & deformity of nails)
Genetics:
- autosomal dominant
- associated with defects in COL7A1
Clinical manifestations:
- congenital localized absence of skin
- skin fragility
- deformity of nails
General
epidermolysis bullosa dystrophica (EBD)
Database Correlations
OMIM correlations
References
UniProt :accession Q02388