Gain-of-function mutation in ubiquitin-ligase KLHL24 causes desmin degradation and dilatation in hiPSC-derived engineered heart tissues von Vermeer, Mathilde Csc, Bolling, Maria C, Bliley, Jacqueline M, Arevalo Gomez, Karla F, Pavez-Giani, Mario G, Kramer, Duco, Romero-Herrera, Pedro H, Westenbrink, B Daan, Diercks, Gilles Fh, van den Berg, Maarten P, Feinberg, Adam W, Silljé, Herman H W, van der Meer, Peter

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A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation von Vermeer, Mathilde C.S.C., Al‐Shinnag, Mohammad, Silljé, Herman H.W., Gaytan, Antonio Esquivel, Murrell, Dedee F., McGaughran, Julie, Melbourne, Wei, Cowan, Timothy, Akker, Peter C., Spaendonck‐Zwarts, Karin Y., Meer, Peter, Bolling, Maria C.

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Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma von Verkerk, Annemieke JMH, Andrei, Daniela, Vermeer, Mathilde CSC, Kramer, Duco, Schouten, Marloes, Arp, Pascal, Verlouw, Joost AM, Pas, Hendri H, Meijer, Hillegonda J, van der Molen, Marije, Oberdorf-Maass, Silke, Nijenhuis, Miranda, Romero-Herrera, Pedro H, Hoes, Martijn F, Bremer, Jeroen, Slotman, Johan A, van den Akker, Peter C, Diercks, Gilles FH, Giepmans, Ben NG, Stoop, Hans, Saris, Jasper, van den Ouweland, Ans MW, Willemsen, Rob, Hublin, Jean-Jacques, Dean, M Christopher, Hoogeboom, A Jeannette M, Silljé, Herman HW, Uitterlinden, André G, van der Meer, Peter, Bolling, Maria C

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