Journal of Applied Genetics

, Volume 54, Issue 2, pp 231–234 | Cite as

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

  • Eyal Reinstein
  • Ericka B. Okenfuss
  • Isha Wadhawan
  • Yael Wilnai
  • Melanie Manning
  • David L. Rimoin
  • Ralph S. Lachman
Human Genetics • Case Report
  • 122 Downloads

Notes

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.

References

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Copyright information

© Institute of Plant Genetics, Polish Academy of Sciences, Poznan 2013

Authors and Affiliations

  • Eyal Reinstein
    • 1
  • Ericka B. Okenfuss
    • 2
  • Isha Wadhawan
    • 3
  • Yael Wilnai
    • 4
  • Melanie Manning
    • 4
  • David L. Rimoin
    • 3
  • Ralph S. Lachman
    • 3
  1. 1.Division of Internal Medicine and Medical Genetics InstituteRambam Medical CenterHaifaIsrael
  2. 2.Kaiser PermanenteOaklandUSA
  3. 3.Medical Genetics Institute, Cedars-Sinai Medical CenterDavid Geffen School of Medicine at University of California Los AngelesLos AngelesUSA
  4. 4.Division of Medical GeneticsStanford UniversityPalo AltoUSA

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