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Research Article

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients†

  1. Nicole de Leeuw1,
  2. Saskia Bulk2,
  3. Andrew Green3,4,
  4. Lane Jaeckle-Santos5,
  5. Linda A. Baker6,
  6. Andrew R. Zinn5,
  7. Tjitske Kleefstra1,
  8. Jasper J. van der Smagt2,
  9. Angela Maria Vianne Morgante7,
  10. Bert B.A. de Vries1,
  11. Hans van Bokhoven1,8,
  12. Arjan P.M. de Brouwer1,*

Article first published online: 24 NOV 2010

DOI: 10.1002/ajmg.a.33743

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 152A, Issue 12, pages 3084–3090, December 2010

Additional Information

How to Cite

de Leeuw, N., Bulk, S., Green, A., Jaeckle-Santos, L., Baker, L. A., Zinn, A. R., Kleefstra, T., van der Smagt, J. J., Vianne Morgante, A. M., de Vries, B. B.A., van Bokhoven, H. and de Brouwer, A. P.M. (2010), UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. Am. J. Med. Genet., 152A: 3084–3090. doi: 10.1002/ajmg.a.33743

Author Information

  1. 1

    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

  2. 2

    Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands

  3. 3

    National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland

  4. 4

    UCD School of Medicine and Medical Science, Dublin, Ireland

  5. 5

    McDermott Center for Human Growth and Development, Department of Internal Medicine, The University of Texas Southwestern Medical School, Dallas, Texas

  6. 6

    Department of Urology, The University of Texas Southwestern Medical School, Dallas, Texas

  7. 7

    Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil

  8. 8

    Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

*Department of Human Genetics, 855, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

  1. †

    How to Cite this Article: de Leeuw N, Bulk S, Green A, Jaeckle-Santos L, Baker LA, Zinn AR, Kleefstra T, van der Smagt JJ, Vianne Morgante AM, de Vries BBA, van Bokhoven H, de Brouwer APM. 2010. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. Am J Med Genet Part A 152A:3084–3090.

Publication History

  1. Issue published online: 24 NOV 2010
  2. Article first published online: 24 NOV 2010
  3. Manuscript Accepted: 6 SEP 2010
  4. Manuscript Received: 15 JUN 2010

Funded by

  • UT Southwestern Medical School
  • Dutch Organisation for Health Research and Development. Grant Number: ZON-MW 917-86-319

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