Article
Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations.
Journal of the American Academy of Dermatology - 1 Sept 2006
Mizrachi-Koren Mordechai, Shemer Saar, Morgan Michal, Indelman Margarita, Khamaysi Ziad, Petronius Danny, Bitterman-Deutsch Ora, Hennies Hans Christian, Bergman Reuven, Sprecher Eli
Abstract excerpt
BACKGROUND: The routine diagnosis of genodermatoses is significantly complicated by the fact that in this group of disorders, clinical manifestations may result from mutations in unrelated genes (genetic heterogeneity) and mutations in the same gene often lead to dissimilar clinical signs (phenot...
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