Update on genetic conditions affecting the skin and the kidneys

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

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
Online-Ressource
Language
Englisch
Notes
Frontiers in pediatrics. - 6 (2018) , 00043, ISSN: 2296-2360

Event
Veröffentlichung
(where)
Freiburg
(who)
Universität
(when)
2019

DOI
10.3389/fped.2018.00043
URN
urn:nbn:de:bsz:25-freidok-1467077
Rights
Kein Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
25.03.2025, 1:44 PM CET

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Associated

Time of origin

  • 2019

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