Associated Papers
Dual Monogenic Cystic Disease Case Report: Autosomal Dominant Polycystic Kidney Disease and Autosomal Dominant Polycystic Liver Disease.
Brossart AK et al.
Clinical Case Reports, 2026
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.
Sierks D et al.
Jhep Reports : Innovation in Hepatology, 2022
36246085 (PubMed )
Supplement: mmc1.pdf
Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease.
Wang J et al.
Annals of Translational Medicine, 2021
Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.
Cnossen WR et al.
Journal of Clinical Laboratory Analysis, 2016
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management.
Cnossen WR et al.
Orphanet Journal of Rare Diseases, 2014
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
Waanders E et al.
Clinical Genetics, 2010
Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.
Waanders E et al.
Histochemistry and Cell Biology, 2008
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