3593 COEXISTENCE OF 2 (DE NOVO) MUTATIONS IN 2 DIVERSE GENES (PKD1, LRP5) IN A PATIENT WITH RENAL AND LIVER POLYCYSTIC DISEASE

Abstract Introduction In Autosomal Dominant Polycystic Kidney Disease (ADPKD) the phenotype is variable. The most common extrarenal manifestation of the disease is the presence of hepatic cysts. Parallel cysts appearance in two different organs is possibly related to the genetic injury. We present i...

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Veröffentlicht in:Nephrology, dialysis, transplantation dialysis, transplantation, 2023-06, Vol.38 (Supplement_1)
Hauptverfasser: Tsirpanlis, George, Palaiologou, Danai, Lazaros, Leandros, Louka, Michaela, Evangelou, Eirini, Gkalitsiou, Dimitra, Kanavakis, Emmanouil
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Sprache:eng
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