Article
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
The Journal of clinical investigation - 1 May 2017
Besse Whitney, Dong Ke, Choi Jungmin, Punia Sohan, Fedeles Sorin V, Choi Murim, Gallagher Anna-Rachel, Huang Emily B, Gulati Ashima, Knight James, Mane Shrikant, Tahvanainen Esa, Tahvanainen Pia, Sanna-Cherchi Simone, Lifton Richard P, Watnick Terry, Pei York P, Torres Vicente E, Somlo Stefan
Abstract excerpt
Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are radiologically and pathologically identical to those seen in autosomal dominant polycystic kidney disease, but without clinically relevant kidney cysts. The causative genes are known for fewer than 40% of PCLD index cases. Here, we have used whole exome sequencing in a discovery cohort of 102 unrelated patients who were...
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