Article
Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis.
Archives of dermatological research - 1 Aug 2008
Ouragini Houyem, Cherif Faïka, Daoud Wafa, Kassar Selma, Charfeddine Chérine, Rebaï Ahmed, Boubaker Samir, Ben Osman-Dhahri Amel, Abdelhak Sonia
Abstract excerpt
Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis caused by mutations in the type VII collagen gene COL7A1. Clinical diagnosis of DEB should be confirmed by histopathological and electron microscopy analysis, which is not always accessible. We report here a genetic investigation of DEB consanguineous families in Tunisia. A total of 23 EB families were genotyped with 5 microsatellite markers...
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