Polycystic Liver Disease
Last Posted: Aug 01, 2018
- CLINGEN Actionability Report for Autosomal Dominant Polycystic Kidney Disease - DNAJB11, GANAB, PKD1, PKD2
ClinGen Actionability Working Group
- Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.
Wills Edgar S, et al. European journal of human genetics : EJHG 2016 8
- KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Polycystic Liver Disease.
Savige Judy et al. Seminars in nephrology 2015 Nov (6) 618-622.e5
- LRP5 variants may contribute to ADPKD.
Cnossen Wybrich R, et al. European journal of human genetics : EJHG 2015 4
- Spanish guidelines for the management of autosomal dominant polycystic kidney disease.
- Polycystic liver disease
From NCATS Genetic and Rare Diseases Information Center
- Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.
Van Keimpema Loes, et al. Liver international : official journal of the International Association for the Study of the Liver 2011 1 (1) 92-8
- PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease.
Yang AM, et al. Digestive diseases and sciences 2009 3
- Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.
Waanders Esmé, et al. Human mutation 2006 8 (8) 830
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