Article
Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression.
European journal of dermatology : EJD - 1 Jan 2000
Burger Bettina, Hershkovitz Dov, Indelman Margarita, Kovac Michal, Galambos Jörg, Haeusermann Peter, Sprecher Eli, Itin Peter H
Abstract excerpt
Buschke-Ollendorff syndrome refers to the concomitant occurrence of connective tissue nevi, composed of elastic fibers in most cases, with osteopoikilosis. This autosomal dominant inherited disorder is caused by mutations in the gene LEMD3 on chromosome 12q14, which induces a rather heterogeneous clinical phenotype. Here, we report on the most proximal germline mutation found to date in the LEMD3 gene, p.Val94fs,...
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