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.
CITATION STYLE
Reimer, A., He, Y., & Has, C. (2018). Update on genetic conditions affecting the skin and the kidneys. Frontiers in Pediatrics, 6. https://doi.org/10.3389/fped.2018.00043
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