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Research Article

Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia

  • Evgeny A. Glazov equal contributor mail,

    equal contributor Contributed equally to this work with: Evgeny A. Glazov, Andreas Zankl

    matt.brown@uq.edu.au (MAB); e.glazov@uq.edu.au (EAG)

    Affiliation: University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba, Australia

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  • Andreas Zankl equal contributor,

    equal contributor Contributed equally to this work with: Evgeny A. Glazov, Andreas Zankl

    Affiliation: Centre for Clinical Research, The University of Queensland, Herston, Australia

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  • Marina Donskoi,

    Affiliation: University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba, Australia

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  • Tony J. Kenna,

    Affiliation: University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba, Australia

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  • Gethin P. Thomas,

    Affiliation: University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba, Australia

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  • Graeme R. Clark,

    Affiliation: University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba, Australia

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  • Emma L. Duncan,

    Affiliations: University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba, Australia, School of Medicine, Faculty of Health Sciences, The University of Queensland, Herston, Australia

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  • Matthew A. Brown mail

    matt.brown@uq.edu.au (MAB); e.glazov@uq.edu.au (EAG)

    Affiliation: University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba, Australia

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  • Published: March 24, 2011
  • DOI: 10.1371/journal.pgen.1002027

About the Authors

Evgeny A. Glazov, Marina Donskoi, Tony J. Kenna, Gethin P. Thomas, Graeme R. Clark, Emma L. Duncan, Matthew A. Brown
University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba, Australia
Andreas Zankl
Centre for Clinical Research, The University of Queensland, Herston, Australia
Emma L. Duncan
School of Medicine, Faculty of Health Sciences, The University of Queensland, Herston, Australia

Corresponding Authors

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: AZ ELD EAG MAB. Performed the experiments: EAG MD TJK GRC GPT. Analyzed the data: EAG GRC MAB ELD GPT TJK. Wrote the paper: AZ EAG ELD MAB. Identified and recruited human subjects, obtained ethical approvals, coordinated collection of samples, and provided clinical information: AZ.