Research Article

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta†

  1. Dustin Baldridge1,‡,
  2. Ulrike Schwarze2,§,
  3. Roy Morello1,
  4. Jennifer Lennington1,
  5. Terry K. Bertin1,
  6. James M. Pace2,
  7. Melanie G. Pepin2,
  8. MaryAnn Weis3,
  9. David R. Eyre3,
  10. Jennifer Walsh4,
  11. Deborah Lambert4,5,
  12. Andrew Green4,6,
  13. Haynes Robinson7,
  14. Melonie Michelson7,
  15. Gunnar Houge8,
  16. Carl Lindman9,
  17. Judith Martin10,
  18. Jewell Ward11,
  19. Emmanuelle Lemyre12,
  20. John J. Mitchell13,
  21. Deborah Krakow14,
  22. David L. Rimoin14,
  23. Daniel H. Cohn14,
  24. Peter H. Byers2,15,
  25. Brendan Lee1,16,*

Article first published online: 19 JUN 2008

DOI: 10.1002/humu.20799

Issue

Human Mutation

Human Mutation

Volume 29, Issue 12, pages 1435–1442, December 2008

Additional Information

How to Cite

Baldridge, D., Schwarze, U., Morello, R., Lennington, J., Bertin, T. K., Pace, J. M., Pepin, M. G., Weis, M., Eyre, D. R., Walsh, J., Lambert, D., Green, A., Robinson, H., Michelson, M., Houge, G., Lindman, C., Martin, J., Ward, J., Lemyre, E., Mitchell, J. J., Krakow, D., Rimoin, D. L., Cohn, D. H., Byers, P. H. and Lee, B. (2008), CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum. Mutat., 29: 1435–1442. doi: 10.1002/humu.20799

Author Information

  1. 1

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas

  2. 2

    Department of Pathology, University of Washington, Seattle, Washington

  3. 3

    Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington

  4. 4

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

  5. 5

    The Children's University Hospital, Dublin, Ireland

  6. 6

    School of Medicine and Medical Science, University College Dublin, Dublin, Ireland

  7. 7

    Genetic Center, Akron Children's Hospital, Akron, Ohio

  8. 8

    Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway

  9. 9

    Department of Pediatrics, Kristiansund Sykehus, Norway

  10. 10

    Inland Northwest Genetics Clinic, Spokane, Washington

  11. 11

    Division of Medical Genetics, University of Tennessee, Memphis, Tennessee

  12. 12

    Service de Génétique Médicale, CHU-Ste-Justine, Département de Pédiatrie, Université de Montréal, Montréal, Québec, Canada

  13. 13

    Division of Medical Genetics, McGill University, Montreal, Canada

  14. 14

    Medical Genetics Institute, Cedars-Sinai Medical Center and David Geffen School of Medicine at University of California, Los Angeles (UCLA), Los Angeles, California

  15. 15

    Department of Medicine, University of Washington, Seattle, Washington

  16. 16

    Howard Hughes Medical Institute, Houston, Texas

  1. ‡

    Dustin Baldridge and Ulrike Schwarze contributed equally to this work.

  2. §

    Dustin Baldridge and Ulrike Schwarze contributed equally to this work.

*One Baylor Plaza Rm 635E, Houston, TX 77030

  1. †

    Communicated by Reed E. Pyeritz

  2. ‡

    Dustin Baldridge and Ulrike Schwarze contributed equally to this work.

  3. §

    Dustin Baldridge and Ulrike Schwarze contributed equally to this work.

Publication History

  1. Issue published online: 21 NOV 2008
  2. Article first published online: 19 JUN 2008
  3. Manuscript Accepted: 10 MAR 2008
  4. Manuscript Received: 25 JAN 2008

Funded by

  • Winnick Family Clinical Scholars Awards
  • Osteogenesis Imperfecta Foundation
  • Bone Disease Program of Texas
  • Baylor College of Medicine MRDDRC
  • National Institute of General Medical Sciences. Grant Number: T32GM008307
  • National Institutes of Health (NIH). Grant Number: AR051459∣DE01771∣HD22657
  • NIH General Clinical Research Center Grant to Cedars-Sinai Medical Center. Grant Number: M01-RR00425

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