Polycystic liver disease
Definition:
References:
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[1]. Airong Li, et al. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. Am J Hum Genet. 2003 Mar;72(3):691-703. [Content Brief]
[2]. F Temmerman, et al. Systematic review: the pathophysiology and management of polycystic liver disease. Aliment Pharmacol Ther. 2011 Oct;34(7):702-13. [Content Brief]
[3]. Mario Strazzabosco, et al. Polycystic liver diseases: congenital disorders of cholangiocyte signaling. Gastroenterology. 2011 Jun;140(7):1855-9, 1859.e1. [Content Brief]
[4]. Sonia Davila, et al. Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet. 2004 Jun;36(6):575-7. [Content Brief]
[5]. Whitney Besse, et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest. 2017 May 1;127(5):1772-1785. [Content Brief]
[6]. Wybrich R Cnossen, et al. Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis. Proc Natl Acad Sci U S A. 2014 Apr 8;111(14):5343-8. [Content Brief]
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