Journal of Applied Genetics

, Volume 54, Issue 2, pp 231–234

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

DOI: 10.1007/s13353-013-0136-2

Cite this article as:
Reinstein, E., Okenfuss, E.B., Wadhawan, I. et al. J Appl Genetics (2013) 54: 231. doi:10.1007/s13353-013-0136-2
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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