Article
Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.
Proceedings of the National Academy of Sciences of the United States of America - 8 Apr 2014
Cnossen Wybrich R, te Morsche René H M, Hoischen Alexander, Gilissen Christian, Chrispijn Melissa, Venselaar Hanka, Mehdi Soufi, Bergmann Carsten, Veltman Joris A, Drenth Joost P H
Abstract excerpt
Polycystic livers are seen in the rare inherited disorder isolated polycystic liver disease (PCLD) and are recognized as the most common extrarenal manifestation in autosomal dominant polycystic kidney disease. Hepatic cystogenesis is characterized by progressive proliferation of cholangiocytes, ultimately causing hepatomegaly. Genetically, polycystic liver disease is a heterogeneous disorder with incomplete...
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