Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations

Sateesh Maddirevula, Mohammad Shagrani, Ae‐Ri Ji, Christopher R. Horne, Samuel N. Young, Lucy J. Mather, Mashael Alqahtani, Colin McKerlie, Geoffrey A. Wood, Paul Potter, Firdous Abdulwahab, Tarfa Al‐Sheddi, Wendy L. van der Woerd, Koen L.I. van Gassen, Dalal Albogami, Kishwer Kumar, Ali Syed Muhammad Akhtar, Hiba Mohammed Amin Binomar, Hadeel Almanea, Eissa Faqeih, Sabine A. Fuchs, John W. Scott, James M. Murphy, Fowzan S. Alkuraya