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

Por 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
Publicado em 2010

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Por Hennies, Hans Christian, Kornak, Uwe, Zhang, Haikuo, Egerer, Johannes, Zhang, Xin, Seifert, Wenke, Kühnisch, Jirko, Budde, Birgit, Nätebus, Marc, Brancati, Francesco, Wilcox, William R., Müller, Dietmar, Kaplan, Paige B., Rajab, Anna, Zampino, Giuseppe, Fodale, Valentina, Dallapiccola, Bruno, Newman, William, Metcalfe, Kay, Clayton-Smith, Jill, Tassabehji, May, Steinmann, Beat, Barr, Francis A., Nürnberg, Peter, Wieacker, Peter, Mundlos, Stefan
Publicado em 2008