Article
Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.
Clinical journal of the American Society of Nephrology : CJASN - 7 May 2015
Lehnhardt Anja, Karnatz Claartje, Ahlenstiel-Grunow Thurid, Benz Kerstin, Benz Marcus R, Budde Klemens, Büscher Anja K, Fehr Thomas, Feldkötter Markus, Graf Norbert, Höcker Britta, Jungraithmayr Therese, Klaus Günter, Koehler Birgit, Konrad Martin, Kranz Birgitta, Montoya Carmen R, Müller Dominik, Neuhaus Thomas J, Oh Jun, Pape Lars, Pohl Martin, Royer-Pokora Brigitte, Querfeld Uwe, Schneppenheim Reinhard, Staude Hagen, Spartà Giuseppina, Timmermann Kirsten, Wilkening Frauke, Wygoda Simone, Bergmann Carsten, Kemper Markus J
Abstract excerpt
BACKGROUND AND OBJECTIVES: The Wilms tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Genotype/phenotype correlations of WT1 mutations with renal function and proteinuria have been observed in world-wide cohorts with nephrotic syndrome or Wilms tumor (WT). This study analyzed mid-European patients with known constitutional heterozygous mutations in WT1, including...
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