Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

Generalized peeling skin disease is an autosomal-recessive ichthyosiform erythroderma characterized by lifelong patchy peeling of the skin. After genome-wide linkage analysis, we have identified a homozygous nonsense mutation in CDSN in a large consanguineous family with generalized peeling skin, pr...

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Autors principals: Oji, Vinzenz, Eckl, Katja-Martina, Aufenvenne, Karin, Nätebus, Marc, Tarinski, Tatjana, Ackermann, Katharina, Seller, Natalia, Metze, Dieter, Nürnberg, Gudrun, Fölster-Holst, Regina, Schäfer-Korting, Monika, Hausser, Ingrid, Traupe, Heiko, Hennies, Hans Christian
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2917721/
https://ncbi.nlm.nih.gov/pubmed/20691404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.07.005
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