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Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues

  • Human Genetics • Case Report
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Acknowledgments

This work was supported, in part, by an NIH Program Project Grant HD22657 and Training Grant (2 T32 GM008243). The authors thank Dr. Yoreh Barak for his helpful comments.

Declaration of interest

The authors report no conflicts of interest.

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Authors and Affiliations

  1. Division of Internal Medicine and Medical Genetics Institute, Rambam Medical Center, Haifa, Israel

    Eyal Reinstein

  2. Kaiser Permanente, Oakland, CA, USA

    Ericka B. Okenfuss

  3. Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA, USA

    Isha Wadhawan, David L. Rimoin & Ralph S. Lachman

  4. Division of Medical Genetics, Stanford University, Palo Alto, CA, USA

    Yael Wilnai & Melanie Manning

Authors
  1. Eyal Reinstein
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  2. Ericka B. Okenfuss
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  3. Isha Wadhawan
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  4. Yael Wilnai
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  5. Melanie Manning
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  6. David L. Rimoin
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  7. Ralph S. Lachman
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Corresponding author

Correspondence to Eyal Reinstein.

Additional information

David L. Rimoin passed away during the course of this study.

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Reinstein, E., Okenfuss, E.B., Wadhawan, I. et al. Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues. J Appl Genetics 54, 231–234 (2013). https://doi.org/10.1007/s13353-013-0136-2

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  • DOI: https://doi.org/10.1007/s13353-013-0136-2

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