Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1 | Zendy

A. Lehnhardt | Zendy; Claartje Karnatz | Zendy; Thurid Ahlenstiel-Grunow | Zendy; Kerstin Benz | Zendy; Marcus R. Benz | Zendy; Klemens Budde | Zendy; Anja Büscher | Zendy; Thomas Fehr | Zendy; Markus Feldkötter | Zendy; Norbert Graf | Zendy; Britta Höcker | Zendy; Therese Jungraithmayr | Zendy; Günter Klaus | Zendy; B Koehler | Zendy; Martin Konrad | Zendy; Birgitta Kranz | Zendy; Carmen Montoya | Zendy; Dominik N. Müller | Zendy; Thomas J. Neuhaus | Zendy; Jun Oh | Zendy; Lars Pape | Zendy; Martin Pöhl | Zendy; Brigitte RoyerPokora | Zendy; Uwe Querfeld | Zendy; Reinhard Schneppenheim | Zendy; Hagen Staude | Zendy; Giuseppina Spartà | Zendy; Kirsten Timmermann | Zendy; Frauke Wilkening | Zendy; Simone Wygoda | Zendy; Carsten Bergmann | Zendy; Markus J. Kemper | Zendy

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Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1

Author(s) -

A. Lehnhardt,

Claartje Karnatz,

Thurid Ahlenstiel-Grunow,

Kerstin Benz,

Marcus R. Benz,

Klemens Budde,

Anja Büscher,

Thomas Fehr,

Markus Feldkötter,

Norbert Graf,

Britta Höcker,

Therese Jungraithmayr,

Günter Klaus,

B Koehler,

Martin Konrad,

Birgitta Kranz,

Carmen Montoya,

Dominik N. Müller,

Thomas J. Neuhaus,

Jun Oh,

Lars Pape,

Martin Pöhl,

Brigitte RoyerPokora,

Uwe Querfeld,

Reinhard Schneppenheim,

Hagen Staude,

Giuseppina Spartà,

Kirsten Timmermann,

Frauke Wilkening,

Simone Wygoda,

Carsten Bergmann,

Markus J. Kemper

Publication year - 2015

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.10141014

Subject(s) - medicine , wilms' tumor , suppressor , gene , mutation , heterozygote advantage , cancer research , tumor suppressor gene , genetics , pathology , oncology , cancer , allele , carcinogenesis , biology

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 patients without proteinuria or WT.

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