Research Article

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature†

  1. N. Simon Thomas1,2,*,
  2. John F. Harvey1,3,
  3. David J. Bunyan1,
  4. Julia Rankin4,
  5. Giedre Grigelioniene5,
  6. Damien L. Bruno6,7,
  7. Tiong Y. Tan8,
  8. Susan Tomkins9,
  9. Robert Hastings9

Article first published online: 16 JUN 2009

DOI: 10.1002/ajmg.a.32914

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 149A, Issue 7, pages 1407–1414, July 2009

Additional Information

How to Cite

Thomas, N. S., Harvey, J. F., Bunyan, D. J., Rankin, J., Grigelioniene, G., Bruno, D. L., Tan, T. Y., Tomkins, S. and Hastings, R. (2009), Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature. Am. J. Med. Genet., 149A: 1407–1414. doi: 10.1002/ajmg.a.32914

Author Information

  1. 1

    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK

  2. 2

    Human Genetics, University of Southampton, Southampton, UK

  3. 3

    National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury, UK

  4. 4

    Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK

  5. 5

    Clinical Genetics, Karolinska University Hospital Solna, Stockholm, Sweden

  6. 6

    Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia

  7. 7

    Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Melbourne, Australia

  8. 8

    Genetic Health Services Victoria, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Parkville, Melbourne, Australia

  9. 9

    Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Southwell Street, Bristol, UK

*Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.

  1. †

    How to cite this article: Thomas NS, Harvey JF, Bunyan DJ, Rankin J, Grigelioniene G, Bruno DL, Tan TY, Tomkins S, Hastings R. 2009. Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature. Am J Med Genet Part A 149A:1407–1414.

Publication History

  1. Issue published online: 18 JUN 2009
  2. Article first published online: 16 JUN 2009
  3. Manuscript Accepted: 18 MAR 2009
  4. Manuscript Received: 13 JAN 2009

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