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Update on Genetic Conditions Affecting the Skin and the Kidneys
Antonia Reimer1,2, Yinghong He1, Cristina Has1
1Department of Dermatology, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.
Abstract:
Genetic conditions affecting the skin and kidney are clinically and genetically heterogeneous, and target molecular components present in both organs. The molecular pathology involves defects of cell-matrix adhesion, metabolic or signaling pathways, as well as tumor suppressor genes. This article gives a clinically oriented overview of this group of disorders, highlighting entities which have been recently described, as well as the progress made in understanding well-known entities. The genetic bases as well as molecular cell biological mechanisms are described, with therapeutic applications.
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