Research Article

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster†‡

  1. Karin Buiting1,§,*,
  2. Deniz Kanber1,¶,
  3. José I. Martín-Subero2,‖,
  4. Wolfgang Lieb3,
  5. Paulien Terhal4,
  6. Beate Albrecht1,
  7. Sabine Purmann3,
  8. Stephanie Gross1,
  9. Christina Lich1,
  10. Reiner Siebert2,
  11. Bernhard Horsthemke1,
  12. Gabriele Gillessen-Kaesbach3

Article first published online: 2 MAY 2008

DOI: 10.1002/humu.20771

Issue

Human Mutation

Human Mutation

Special Issue: Focus on Array-CGH and Clinical Diagnostics

Volume 29, Issue 9, pages 1141–1146, September 2008

Additional Information

How to Cite

Buiting, K., Kanber, D., Martín-Subero, J. I., Lieb, W., Terhal, P., Albrecht, B., Purmann, S., Gross, S., Lich, C., Siebert, R., Horsthemke, B. and Gillessen-Kaesbach, G. (2008), Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster. Hum. Mutat., 29: 1141–1146. doi: 10.1002/humu.20771

Author Information

  1. 1

    Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany

  2. 2

    Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Kiel, Germany

  3. 3

    Institut für Humangenetik, Universität zu Lübeck, Campus Lübeck, Lübeck, Germany

  4. 4

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

  1. §

    Karin Buiting, Deniz Kanber, and José I. Martín-Subero contributed equally to this work.

  2. Karin Buiting, Deniz Kanber, and José I. Martín-Subero contributed equally to this work.

  3. ‖

    Karin Buiting, Deniz Kanber, and José I. Martín-Subero contributed equally to this work.

*Institut für Humangenetik, Universitätsklinkum Essen, Hufelandstrasse 55, 45122 Essen, Germany

  1. †

    Due to an error that was introduced into the article, this revised version has been published.

  2. ‡

    Communicated by Nancy B. Spinner

  3. §

    Karin Buiting, Deniz Kanber, and José I. Martín-Subero contributed equally to this work.

  4. Karin Buiting, Deniz Kanber, and José I. Martín-Subero contributed equally to this work.

  5. ‖

    Karin Buiting, Deniz Kanber, and José I. Martín-Subero contributed equally to this work.

Publication History

  1. Issue published online: 27 AUG 2008
  2. Article first published online: 2 MAY 2008
  3. Manuscript Accepted: 30 JAN 2008
  4. Manuscript Received: 13 NOV 2007

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