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A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

Authors

  • K.O. Yariz,

    1. Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA
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    • These authors equally contributed.

  • Y.B. Sakalar,

    1. Department of Ophthalmology, Kocaeli Derince Training and Research Hospital, Derince Kocaeli, Turkey
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    • These authors equally contributed.

  • X. Jin,

    1. Bascom Palmer Eye Institute and Interdisciplinary Stem Cell Institute, Miller School of Medicine, University of Miami, Miami, FL, USA
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  • J. Hertz,

    1. Bascom Palmer Eye Institute and Interdisciplinary Stem Cell Institute, Miller School of Medicine, University of Miami, Miami, FL, USA
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  • E.F. Sener,

    1. Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA
    2. Department of Medical Genetics, Erciyes University School of Medicine, Kayseri, Turkey
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  • H. Akay,

    1. Department of Radiology, Istanbul Zeynep Kamil Maternity and Children Training and Research Hospital, Istanbul, Turkey
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  • M.N. Özbek,

    1. Department of Endocrinology, Diyarbakir Children's Hospital, Diyarbakir, Turkey
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  • A. Farooq,

    1. Department of Biochemistry and Molecular Biology, Miller School of Medicine, University of Miami, Miami, FL, USA
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  • J. Goldberg,

    Corresponding author
    1. Bascom Palmer Eye Institute and Interdisciplinary Stem Cell Institute, Miller School of Medicine, University of Miami, Miami, FL, USA
    2. Shiley Eye Center, University of California San Diego, La Jolla, CA, USA
    • Correspondence:

      Mustafa Tekin, M.D., 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL 33136, USA.

      Tel.: 305-243-2381;

      fax: 305-243-2703;

      e-mail: mtekin@med.miami.edu

      and

      Jeffrey Goldberg, Shiley Eye Center, University of California San Diego, La Jolla, CA, 92093, USA.

      Tel.: 858-534-9794;

      e-mail: jlgoldberg@ucsd.edu

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  • M. Tekin

    Corresponding author
    1. Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA
    • Correspondence:

      Mustafa Tekin, M.D., 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL 33136, USA.

      Tel.: 305-243-2381;

      fax: 305-243-2703;

      e-mail: mtekin@med.miami.edu

      and

      Jeffrey Goldberg, Shiley Eye Center, University of California San Diego, La Jolla, CA, 92093, USA.

      Tel.: 858-534-9794;

      e-mail: jlgoldberg@ucsd.edu

    Search for more papers by this author

No abstract is available for this article.

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