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Independent Replication of PSKH1-Associated Hepatorenal Ciliopathy: A Fifth Family with a Novel p.Ala195Thr Variant Expands the Phenotypic and Molecular Spectrum

2026-06-18

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> PSKH1-associated hepatorenal ciliopathy is an exceptionally rare and recently recognized autosomal recessive disorder characterized by neonatal-onset cholestasis and renal dysfunction. To date, the association between pathogenic variants in the PSKH1 gene and this phenotype has been reported in a single study describing four unrelated consanguineous families....

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Literature Corpus work: 94dc06ac-c78a-517a-a2d3-a203663892f3
DOI: 10.21203/rs.3.rs-9295478/v1

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Independent Replication of PSKH1-Associated Hepatorenal Ciliopathy: A Fifth Family with a Novel p.Ala195Thr Variant Expands the Phenotypic and Molecular SpectrumDOI 10.21203/rs.3.rs-9295478/v1Read

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