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Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
Kohl, Stefan; Hwang, Daw-Yang; Dworschak, Gabriel C; Hilger, Alina C; Saisawat, Pawaree; Vivante, Asaf; Stajic, Natasa; Bogdanovic, Radovan; Reutter, Heiko M; Kehinde, Elijah O; Tasic, Velibor; Hildebrandt, Friedhelm.
Affiliation
  • Kohl S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;
  • Hwang DY; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Division of Nephrology, Department of Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan;
  • Dworschak GC; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Institute of Human Genetics, and.
  • Hilger AC; Institute of Human Genetics, and Department of Pediatrics, University of Michigan, Ann Arbor, Michigan;
  • Saisawat P; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan;
  • Vivante A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;
  • Stajic N; Medical Faculty, University of Belgrade, Belgrade, Serbia; Institute of Mother and Child Healthcare of Serbia, Belgrade, Serbia;
  • Bogdanovic R; Medical Faculty, University of Belgrade, Belgrade, Serbia; Institute of Mother and Child Healthcare of Serbia, Belgrade, Serbia;
  • Reutter HM; Institute of Human Genetics, and Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany;
  • Kehinde EO; Department of Surgery, Kuwait University, Safat, Kuwait;
  • Tasic V; Department of Pediatric Nephrology, University Children's Hospital, Skopje, Macedonia; and.
  • Hildebrandt F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland friedhelm.hildebrandt@childrens.harvard.edu.
J Am Soc Nephrol ; 25(9): 1917-22, 2014 Sep.
Article in En | MEDLINE | ID: mdl-24700879

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Urinary Tract / Vesico-Ureteral Reflux / Carrier Proteins / Extracellular Matrix Proteins / Receptors, Interleukin / Intercellular Signaling Peptides and Proteins / Integrin alpha Chains / Fraser Syndrome / Kidney / Mutation Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: J Am Soc Nephrol Journal subject: NEFROLOGIA Year: 2014 Document type: Article Country of publication: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Urinary Tract / Vesico-Ureteral Reflux / Carrier Proteins / Extracellular Matrix Proteins / Receptors, Interleukin / Intercellular Signaling Peptides and Proteins / Integrin alpha Chains / Fraser Syndrome / Kidney / Mutation Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: J Am Soc Nephrol Journal subject: NEFROLOGIA Year: 2014 Document type: Article Country of publication: United States