Mohamed, M; Gardeitchik, T; Balasubramaniam, S; Guerrero-Castillo, S; Dalloyaux, D; van Kraaij, S; Venselaar, H; ... Wevers, RA; + view all Mohamed, M; Gardeitchik, T; Balasubramaniam, S; Guerrero-Castillo, S; Dalloyaux, D; van Kraaij, S; Venselaar, H; Hoischen, A; Urban, Z; Brandt, U; Al-Shawi, R; Simons, JP; Frison, M; Ngu, L-H; Callewaert, B; Spelbrink, H; Kallemeijn, WW; Aerts, JMFG; Waugh, MG; Morava, E; Wevers, RA; - view fewer (2020) Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa. Journal of Inherited Metabolic Disease 10.1002/jimd.12255. (In press).