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Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

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, ult...

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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3986119/
https://ncbi.nlm.nih.gov/pubmed/24706814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1309438111
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