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Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.
Klämbt, Verena; Werth, Max; Onuchic-Whitford, Ana C; Getwan, Maike; Kitzler, Thomas M; Buerger, Florian; Mao, Youying; Deutsch, Konstantin; Mann, Nina; Majmundar, Amar J; Kaminski, Michael M; Shen, Tian; Schmidt-Ott, Kai M; Shalaby, Mohamed; El Desoky, Sherif; Kari, Jameela A; Shril, Shirlee; Lienkamp, Soeren S; Barasch, Jonathan; Hildebrandt, Friedhelm.
Afiliação
  • Klämbt V; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Werth M; Division of Nephrology, Columbia University, New York, NY, USA.
  • Onuchic-Whitford AC; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Getwan M; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Kitzler TM; Department of Medicine, Renal Division, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Buerger F; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Mao Y; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Deutsch K; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Mann N; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Majmundar AJ; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Kaminski MM; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Shen T; Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.
  • Schmidt-Ott KM; Department of Nephrology and Medical Intensive Care, Charité - Universitaetsmedizin Berlin, Germany.
  • Shalaby M; Division of Nephrology, Columbia University, New York, NY, USA.
  • El Desoky S; Department of Nephrology and Medical Intensive Care, Charité - Universitaetsmedizin Berlin, Germany.
  • Kari JA; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
  • Shril S; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
  • Lienkamp SS; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
  • Barasch J; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Hildebrandt F; Department of Medicine, Renal Division, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Nephrol Dial Transplant ; 36(2): 237-246, 2021 01 25.
Article em En | MEDLINE | ID: mdl-33097957

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Transição Epitelial-Mesenquimal / Nefropatias / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Child / Female / Humans Idioma: En Revista: Nephrol Dial Transplant Assunto da revista: NEFROLOGIA / TRANSPLANTE Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Transição Epitelial-Mesenquimal / Nefropatias / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Child / Female / Humans Idioma: En Revista: Nephrol Dial Transplant Assunto da revista: NEFROLOGIA / TRANSPLANTE Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos