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Open Access
Peer-reviewed
Research Article
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
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Amelie T. van der Ven,
Roles Investigation, Writing – original draft, Writing – review & editing
Affiliation Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Birgit Kobbe,
Roles Investigation
Affiliation Center for Biochemistry, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany
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Stefan Kohl,
Roles Conceptualization, Investigation, Writing – review & editing
Affiliations Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America, Department of Pediatrics, Cologne Children’s Hospital, Cologne, Germany
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Shirlee Shril,
Roles Investigation
Affiliation Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Hans-Martin Pogoda,
Roles Investigation
Affiliation Institute of Zoology-Developmental Biology, Biocenter Cologne, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany
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Thomas Imhof,
Roles Resources
Affiliation Institute for Dental Research and Oral Musculoskeletal Biology, Medical Faculty, University of Cologne, Cologne, Germany
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Hadas Ityel,
Roles Investigation
Affiliation Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Asaf Vivante,
Roles Investigation
Affiliations Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America, Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel
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Jing Chen,
Roles Investigation
Affiliations Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America, Department of Nephrology, Children’s Hospital of Fudan University, Shanghai, China
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Daw-Yang Hwang,
Roles Investigation
Affiliations Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America, Division of Nephrology, Department of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
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Dervla M. Connaughton,
Roles Investigation
Affiliation Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Nina Mann,
Roles Investigation
Affiliation Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Eugen Widmeier,
Roles Investigation, Resources
Affiliation Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Mary Taglienti,
Roles Resources
Affiliation Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Johanna Magdalena Schmidt,
Roles Investigation
Affiliation Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Makiko Nakayama,
Roles Investigation
Affiliation Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Prabha Senguttuvan,
Roles Resources
Affiliation Department of Pediatric Nephrology, Dr. Mehta’s Multispeciality Hospital, Chennai, India
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Selvin Kumar,
Roles Resources
Affiliation Department of Pediatric Nephrology, Institute of Child Health and Hospital for Children, the Tamil Nadu Dr. M.G.R. Medical University, Chennai, Tamil Nadu, India
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Velibor Tasic,
Roles Resources
Affiliation Medical Faculty Skopje, University Children’s Hospital, Skopje, Macedonia
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Elijah O. Kehinde,
Roles Resources
Affiliation Division of Urology, Department of Surgery, Nazarbayev University, Astana, Kazakhstan
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Shrikant M. Mane,
Roles Investigation, Resources, Software
Affiliation Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, United States of America
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Richard P. Lifton,
Roles Investigation, Resources, Software
Affiliations Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, United States of America, Howard Hughes Medical Institute, Chevy Chase, Maryland, United States of America
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Neveen Soliman,
Roles Resources
Affiliation Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Cairo University, Egyptian Group for Orphan Renal Diseases, Cairo, Egypt
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Weining Lu,
Roles Resources, Writing – review & editing
Affiliation Renal Section, Department of Medicine, Boston University Medical Center, Boston, Massachusetts, United States of America
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Stuart B. Bauer,
Roles Resources, Writing – review & editing
Affiliation Department of Urology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
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Matthias Hammerschmidt,
Roles Conceptualization, Data curation, Funding acquisition, Investigation, Project administration, Writing – original draft, Writing – review & editing
Affiliation Institute of Zoology-Developmental Biology, Biocenter Cologne, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany
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Raimund Wagener ,
Roles Conceptualization, Data curation, Funding acquisition, Investigation, Project administration, Writing – original draft, Writing – review & editing
* E-mail: Raimund.wagener@uni-koeln.de (RW); Friedhelm.Hildebrandt@childrens.harvard.edu (FH)
Affiliation Center for Biochemistry, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany
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Friedhelm Hildebrandt
Roles Conceptualization, Formal analysis, Funding acquisition, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing
* E-mail: Raimund.wagener@uni-koeln.de (RW); Friedhelm.Hildebrandt@childrens.harvard.edu (FH)
Affiliation Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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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
- Published: January 19, 2018
- https://doi.org/10.1371/journal.pone.0191224