Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
Nature Genetics
Cullinane, Andrew R AR; Straatman-Iwanowska, Anna A; Zaucker, Andreas A; Wakabayashi, Yoshiyuki Y; Bruce, Christopher K CK; Luo, Guanmei G; Rahman, Fatimah F; Gürakan, Figen F; Utine, Eda E; Ozkan, Tanju B TB; Denecke, Jonas J; Vukovic, Jurica J; Di Rocco, Maja M; Mandel, Hanna H; Cangul, Hakan H; Matthews, Randolph P RP; Thomas, Steve G SG; Rappoport, Joshua Z JZ; Arias, Irwin M IM; Wolburg, Hartwig H; Knisely, A S AS; Kelly, Deirdre A DA; Müller, Ferenc F; Maher, Eamonn R ER; Gissen, Paul P