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Genotype-phenotype associations in WT1 glomerulopathy

Lipska-Zietkiewicz, Beata S.; Ranchin, Bruno; Iatropoulos, Paraskevas; Gellermann, Jutta; Melk, Anette; Ozaltin, Fatih; Caridi, Gianluca; Seeman, Tomas; Tory, Kalman; Jankauskiene, Augustina; Zurowska, Aleksandra; Szczepanska, Maria; Wasilewska, Anna; Harambat, Jerome; Trautmann, Agnes; Peco-Antic, Amira; Borzecka, Halina; Moczulska, Anna; Saeed, Bassam; Bogdanovic, Radovan; Bogdanovic, Radovan


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        "name": "Lipska-Zietkiewicz, Beata S."
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        "name": "Ranchin, Bruno"
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      {
        "affiliation": "Clin Res Ctr Rare Dis Aldo & Cele Dacco, IRCCS Ist Ric Farmacol Mario Negri, Bergamo, Italy", 
        "name": "Iatropoulos, Paraskevas"
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      {
        "affiliation": "Charite Campus Virchow Klinikum, Klin Pediat Nephrol, Berlin, Germany", 
        "name": "Gellermann, Jutta"
      }, 
      {
        "affiliation": "MHH Childrens Hosp, Hannover, Germany", 
        "name": "Melk, Anette"
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      {
        "name": "Ozaltin, Fatih"
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      {
        "name": "Caridi, Gianluca"
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      {
        "name": "Seeman, Tomas"
      }, 
      {
        "affiliation": "Semmelweis Univ, Dept Pediat 1, H-1085 Budapest, Hungary", 
        "name": "Tory, Kalman"
      }, 
      {
        "affiliation": "Vilnius Univ, Vilnius, Lithuania", 
        "name": "Jankauskiene, Augustina"
      }, 
      {
        "affiliation": "Med Univ Gdansk, Dept Paediat Nephrol & Hypertens, Gdansk, Poland", 
        "name": "Zurowska, Aleksandra"
      }, 
      {
        "affiliation": "Med Univ Silesia, Dept & Clin Pediat, Dialysis Div Children, Zabrze, Poland", 
        "name": "Szczepanska, Maria"
      }, 
      {
        "affiliation": "Univ Bialystok, Dept Pediat Nephrol, Bialystok, Poland", 
        "name": "Wasilewska, Anna"
      }, 
      {
        "affiliation": "Ctr Hosp Univ Bordeaux, Ctr Reference Malad Renales Rares Sud Quest, Serv Pediat, Bordeaux, France", 
        "name": "Harambat, Jerome"
      }, 
      {
        "affiliation": "Heidelberg Univ, Ctr Pediat & Adolescent Med, Div Pediat Nephrol, Heidelberg, Germany", 
        "name": "Trautmann, Agnes"
      }, 
      {
        "affiliation": "Univ Childrens Hosp, Div Pediat Nephrol, Belgrade, Serbia", 
        "name": "Peco-Antic, Amira"
      }, 
      {
        "affiliation": "Med Univ Lublin, Lublin, Poland", 
        "name": "Borzecka, Halina"
      }, 
      {
        "affiliation": "Jagiellonian Univ, Coll Med, Dept Pediat Nephrol, Krakow, Poland", 
        "name": "Moczulska, Anna"
      }, 
      {
        "affiliation": "Kidney Hosp, Dept Pediat Nephrol, Damascus, Syria", 
        "name": "Saeed, Bassam"
      }, 
      {
        "affiliation": "Inst Mother & Child Healthcare Serbia, Dept Nephrol, Belgrade, Serbia", 
        "name": "Bogdanovic, Radovan"
      }, 
      {
        "affiliation": "Inst Mother & Child Healthcare Serbia, Dept Nephrol, Belgrade, Serbia", 
        "name": "Bogdanovic, Radovan"
      }
    ], 
    "description": "WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant nephrotic syndrome relative to 700 WT1-negative patients, all with steroid-resistant nephrotic syndrome. WT1 patients more frequently presented with chronic kidney disease and hypertension at diagnosis and exhibited more rapid disease progression. Focal segmental glomerulosclerosis was equally prevalent in both cohorts, but diffuse mesangial sclerosis was largely specific for WT1 disease and was present in 34% of cases. Sex reversal and/or urogenital abnormalities (52%), Wilms tumor (38%), and gonadoblastoma (5%) were almost exclusive to WT1 disease.", 
    "doi": "10.1038/ki.2013.519", 
    "has_grant": false, 
    "journal": {
      "issue": "5", 
      "pages": "1169-1178", 
      "title": "KIDNEY INTERNATIONAL", 
      "volume": "85"
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    "license": {
      "id": "cc-by"
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    "publication_date": "2014-01-01", 
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    "title": "Genotype-phenotype associations in WT1 glomerulopathy"
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