Clinical Report

Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding†‡

  1. Luitgard M. Graul-Neumann1,2,*,
  2. Alexia Bach3,
  3. Michael Albani3,
  4. Hannelore Ringe4,
  5. Andreas Weimann5,
  6. Wolfram Kress6,
  7. Olaf Hiort7,
  8. Oliver Bartsch8

Article first published online: 15 JUN 2009

DOI: 10.1002/ajmg.a.32889

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 149A, Issue 7, pages 1487–1493, July 2009

Additional Information

How to Cite

Graul-Neumann, L. M., Bach, A., Albani, M., Ringe, H., Weimann, A., Kress, W., Hiort, O. and Bartsch, O. (2009), Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. Am. J. Med. Genet., 149A: 1487–1493. doi: 10.1002/ajmg.a.32889

Author Information

  1. 1

    Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany

  2. 2

    Institute of Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany

  3. 3

    Department of Pediatrics, Dr. Horst Schmidt-Kliniken, Wiesbaden, Germany

  4. 4

    Department of Pediatrics, Charité Universitätsmedizin Berlin, Berlin, Germany

  5. 5

    Central Institute of Laboratory Medicine and Pathobiochemistry, Charité Universitätsmedizin Berlin, Berlin, Germany

  6. 6

    Institute of Human Genetics, University of Würzburg, Biozentrum, Würzburg, Germany

  7. 7

    Department of Pediatrics, University of Lübeck, Lübeck, Germany

  8. 8

    Institute of Human Genetics, Johannes Gutenberg-Universität Mainz, Mainz, Germany

*Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

  1. †

    Luitgard M. Graul-Neumann and Alexia Bach contributed equally to this article.

  2. ‡

    How to cite this article: Graul-Neumann LM, Bach A, Albani M, Ringe H, Weimann A, Kress W, Hiort O, Bartsch O. 2009. Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. Am J Med Genet Part A 149A:1487–1493.

Publication History

  1. Issue published online: 18 JUN 2009
  2. Article first published online: 15 JUN 2009
  3. Manuscript Accepted: 23 MAR 2009
  4. Manuscript Received: 25 SEP 2008

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