Article
Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene.
The Journal of investigative dermatology - 1 Dec 1997
Christiano A M, Fine J D, Uitto J
Abstract excerpt
Transient bullous dermolysis of the newborn (TBDN) is a blistering disease evident at birth or shortly thereafter, but the blistering tendency decreases with advancing age. The tissue separation in TBDN is below the lamina densa, and electron microscopy has revealed abnormalities in anchoring fibrils. Immunofluorescence staining demonstrates intracellular accumulation of type VII collagen. In this study, we...
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