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Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

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Science  08 Feb 2008:
Vol. 319, Issue 5864, pp. 816-819
DOI: 10.1126/science.1151174

Article Information

vol. 319 no. 5864 816-819

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History: 
  • Received for publication October 1, 2007
  • Accepted for publication December 18, 2007
  • .

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Author Information

  1. Anita Rauch1,*,
  2. Christian T. Thiel1,
  3. Detlev Schindler2,
  4. Ursula Wick1,
  5. Yanick J. Crow3,
  6. Arif B. Ekici1,
  7. Anthonie J. van Essen4,
  8. Timm O. Goecke5,
  9. Lihadh Al-Gazali6,
  10. Krystyna H. Chrzanowska7,
  11. Christiane Zweier1,
  12. Han G. Brunner8,
  13. Kristin Becker9,
  14. Cynthia J. Curry10,
  15. Bruno Dallapiccola11,
  16. Koenraad Devriendt12,
  17. Arnd Dörfler13,
  18. Esther Kinning14,
  19. André Megarbane15,
  20. Peter Meinecke16,
  21. Robert K. Semple17,
  22. Stephanie Spranger18,
  23. Annick Toutain19,
  24. Richard C. Trembath20,
  25. Egbert Voss21,
  26. Louise Wilson22,
  27. Raoul Hennekam22,23,24,
  28. Francis de Zegher25,
  29. Helmuth-Günther Dörr26,
  30. André Reis1
  1. 1 Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
  2. 2 Department of Human Genetics, University of Würzburg, Würzburg, Germany.
  3. 3 Leeds Institute of Molecular Medicine, St. James's University Hospital, Leeds, UK.
  4. 4 Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
  5. 5 Institut für Humangenetik und Anthropologie, Heinrich-Heine-Universität, Düsseldorf, Germany.
  6. 6 Faculty of Medicine, United Arab Emirates University, Al-Ain, UAE.
  7. 7 Department of Medical Genetics, the Children's Memorial Health Institute, Warsaw, Poland.
  8. 8 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University, Nijmegen Medical Centre, Netherlands.
  9. 9 North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, and Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  10. 10 Genetic Medicine Central California, Fresno, and University of California, San Francisco, CA, USA.
  11. 11 IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, and Department of Experimental Medicine and Pathology, University of Rome La Sapienza, Rome, Italy.
  12. 12 Centre for Human-Genetics, University of Leuven, Leuven, Belgium.
  13. 13 Department of Neuroradiology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
  14. 14 Department of Clinical Genetics, Leicester Royal Infirmary, Leicester, UK.
  15. 15 Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
  16. 16 Abteilung für Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Germany.
  17. 17 Department of Clinical Biochemistry, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
  18. 18 Praxis fuer Humangenetik, Bremen, Germany.
  19. 19 Department of Genetics, Bretonneau University Hospital, Tours, France.
  20. 20 Department of Medical and Molecular Genetics, School of Medicine, King's College London, UK.
  21. 21 Cnopf's Pediatric Hospital, Nuremberg, Germany.
  22. 22 Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.
  23. 23 Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UK.
  24. 24 Department of Paediatrics, University of Amsterdam, Amsterdam, Netherlands.
  25. 25 Department of Woman and Child, University of Leuven, Leuven, Belgium.
  26. 26 Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
  1. * To whom correspondence should be addressed. E-mail: Anita.Rauch{at}humgenet.uni-erlangen.de

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