Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations.
Maddirevula S, Shagrani M, Ji AR, Horne CR, Young SN, Mather LJ, Alqahtani M, McKerlie C, Wood G, Potter PK, Abdulwahab F, AlSheddi T, van der Woerd WL, van Gassen KLI, AlBogami D, Kumar K, Muhammad Akhtar AS, Binomar H, Almanea H, Faqeih E, Fuchs SA, Scott JW, Murphy JM, Alkuraya FS.
Maddirevula S, et al. Among authors: mather lj.
Genet Med. 2024 Nov;26(11):101231. doi: 10.1016/j.gim.2024.101231. Epub 2024 Aug 9.
Genet Med. 2024.
PMID: 39132680