Bart syndrome
From Infogalactic: the planetary knowledge core
| Bart syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 132000 |
| Patient UK | Bart syndrome |
Bart syndrome is a genetic disorder characterized by the association of congenital localized absence of skin, epidermolysis bullosa, lesions of the mouth mucosa, and dystrophic nails.[1][2]
Genetics
The disease is inherited by autosomal dominant transmission with complete penetrance but variable expression. This means that children of an affected parent that carries the gene have a 50% chance of developing the disorder, although the extent to which they are affected is variable.[citation needed]
Bart syndrome is caused by ultrastructural abnormalities in the anchoring fibrils. Genetic linkage of the inheritance of the disease points to the region of chromosome 3 near the collagen, type VII, alpha 1 gene (COL7A1).[3]
