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A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux

  • Amelie T. Van Der Ven
  • , Birgit Kobbe
  • , Stefan Kohl
  • , Shirlee Shril
  • , Hans Martin Pogoda
  • , Thomas Imhof
  • , Hadas Ityel
  • , Asaf Vivante
  • , Jing Chen
  • , Daw Yang Hwang
  • , Dervla M. Connaughton
  • , Nina Mann
  • , Eugen Widmeier
  • , Mary Taglienti
  • , Johanna Magdalena Schmidt
  • , Makiko Nakayama
  • , Prabha Senguttuvan
  • , Selvin Kumar
  • , Velibor Tasic
  • , Elijah O. Kehinde
  • Shrikant M. Mane, Richard P. Lifton, Neveen Soliman, Weining Lu, Stuart B. Bauer, Matthias Hammerschmidt, Raimund Wagener*, Friedhelm Hildebrandt
*Corresponding author for this work
  • Division of Nephrology
  • Boston Children's Hospital
  • Center for Biochemistry
  • University of Cologne
  • Department of Pediatrics
  • Institute of Zoology-Developmental Biology
  • Institute for Dental Research and Oral Musculoskeletal Biology
  • Sheba Medical Center at Tel Hashomer
  • Department of Nephrology
  • Children's Hospital of Fudan University
  • Kaohsiung Medical University
  • Department of Pediatric Nephrology
  • Dr. Mehta’s Multispeciality Hospital
  • Department of Pediatric Nephrology
  • Tamil Nadu Dr. M.G.R. Medical University
  • Medical Faculty of Skopje
  • SS Cyril and Methodius University in Skopje
  • Division of Urology
  • Nazarbayev University
  • Department of Genetics
  • Yale University
  • Howard Hughes Medical Institute
  • Department of Pediatrics
  • Cairo University
  • Renal Section
  • Boston University
  • Department of Urology
  • Division of Nephrology

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6 Scopus citations

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