Article
A novel LAMA3 mutation in a newborn with junctional epidermolysis bullosa herlitz type.
Neonatology - 1 Jan 2011
Mazzucchelli Iolanda, Garofoli Francesca, Decembrino Lidia, Castiglia Daniele, Tadini Gianluca, Bellingeri Andrea, Borghesi Alessandro, Tzialla Chryssoula, Manzoni Paolo, Stronati Mauro
Abstract excerpt
The case of a male neonate of 41 weeks' gestation who developed blistering of the skin immediately after birth is described. His parents were consanguineous Tunisians. Electron microscopy of a cutaneous biopsy showed skin cleavage within the lamina lucida and immunoepitope mapping revealed a complete absence of laminin 332 expression. These findings referred to the diagnosis of junctional epidermolysis bullosa...
Topics
- Biopsy
- Codon, Nonsense
- DNA
- Epidermolysis Bullosa, Junctional
- Fatal Outcome
- Genetic Variation
- Humans
- Infant, Newborn
- Laminin
- Male
- Polymerase Chain Reaction