AUTHOR=Reimer Antonia , He Yinghong , Has Cristina 

TITLE=Update on Genetic Conditions Affecting the Skin and the Kidneys

JOURNAL=Frontiers in Pediatrics

VOLUME=6

YEAR=2018

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2018.00043

DOI=10.3389/fped.2018.00043

ISSN=2296-2360

ABSTRACT=<p>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.</p>