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TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings
  1. C Gruenauer-Kloevekorn1,
  2. I Clausen1,
  3. E Weidle2,
  4. M Wolter-Roessler3,
  5. F Tost4,
  6. H E Völcker5,
  7. D P Schulze6,
  8. W Heinritz7,
  9. T Reinhard8,
  10. U Froster7,
  11. G Duncker1,
  12. D Schorderet9,
  13. C Auw-Haedrich8
  1. 1
    Department of Ophthalmology, Martin Luther University, Halle, Germany
  2. 2
    Department of Ophthalmology, Katharinenhospital, Stuttgart, Germany
  3. 3
    Ophthalmic Surgery, Lauf, Germany
  4. 4
    Department of Ophthalmology, University of Greifswald, Greifswald, Germany
  5. 5
    Department of Ophthalmology, Ruprecht-Karl University, Heidelberg, Germany
  6. 6
    Klinikum Ernst von Bergmann, Potsdam, Germany
  7. 7
    Institute of Human Genetics, University of Leipzig, Leipzig, Germany
  8. 8
    Department of Ophthalmology, Albert-Ludwig University, Freiburg, Germany
  9. 9
    Institut de Recherche en Ophtalmologie, Sion, Switzerland
  1. Dr C Gruenauer-Kloevekorn, Department of Ophthalmology, Martin-Luther University, Ernst-Grube-Strasse 40, 06097 Halle, Germany; claudia.gruenauer-kloevekorn{at}medizin.uni-halle.de

Footnotes

  • Competing interests: None.

  • Funding: This study was supported by the European Social Fund and the State of Sachsen-Anhalt, Germany.

  • Patient consent: Obtained.

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Footnotes

  • Competing interests: None.

  • Funding: This study was supported by the European Social Fund and the State of Sachsen-Anhalt, Germany.

  • Patient consent: Obtained.

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