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Rhizomelic chondrodysplasia punctata — A new clinical variant

  • Case Report
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Journal of Inherited Metabolic Disease

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References

  • Gray RGF, Green A, Schutgens RBH, Wanders RJA, Farndon P, Kennedy CR (1990) Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester.J Inher Metab Dis 13: 380–382.

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  • Poll-The BT, Maroteaux P, Narcy C et al (1991) A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.J Inher Metab Dis 14: 361–363.

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  • Wanders RJA, Schutgens RBH, Van Den Bosch H, Tager JM, Kleijer WJ (1991) Prenatal diagnosis of inborn errors in perixisomal metabolism.Prenat Diagn 11: 253–261.

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Authors and Affiliations

  1. Clinical Chemistry, Children's Hospital, Birmingham, UK

    R. G. F. Gray & A. Green

  2. Department of Radiology, Children's Hospital, Birmingham, UK

    S. Chapman

  3. Clinical Genetics, East Birmingham Hospital, Birmingham, UK

    C. McKeown

  4. University Hospital of Amsterdam, Amsterdam, The Netherlands

    R. B. H. Schutgens & R. J. A. Wanders

Authors
  1. R. G. F. Gray
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  2. A. Green
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  3. S. Chapman
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  4. C. McKeown
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  5. R. B. H. Schutgens
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  6. R. J. A. Wanders
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Gray, R.G.F., Green, A., Chapman, S. et al. Rhizomelic chondrodysplasia punctata — A new clinical variant. J Inherit Metab Dis 15, 931–932 (1992). https://doi.org/10.1007/BF01800236

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  • DOI: https://doi.org/10.1007/BF01800236

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