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

doi:10.1016/j.gim.2024.101231

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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2024

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

Abstract excerpt

PURPOSE: Pediatric cholestasis is the phenotypic expression of clinically and genetically heterogeneous disorders of bile acid synthesis and flow. Although a growing number of monogenic causes of pediatric cholestasis have been identified, the majority of cases remain undiagnosed molecularly. METHODS: In a cohort of 299 pediatric participants (279 families) with intrahepatic cholestasis, we performed exome...

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PMID: 39132680
DOI: 10.1016/j.gim.2024.101231

Genes

PSKH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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