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Polycystic liver disease genes: Practical considerations for genetic testing

7 Feb 2021

Abstract excerpt

The development of a polycystic liver is a characteristic of the monogenic disorders: autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), and autosomal dominant polycystic liver disease (ADPLD). Respectively two and one genes mainly cause ADPKD and ARPKD. In contrast, ADPLD is caused by at least six different genes which combined do not even explain the...

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PMID: 33556586
DOI: 10.1016/j.ejmg.2021.104160

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