Advertisement
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

    X
  • 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

    X
  • Marina Donskoi,

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

    X
  • Tony J. Kenna,

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

    X
  • Gethin P. Thomas,

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

    X
  • Graeme R. Clark,

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

    X
  • 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

    X
  • 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

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

Viewed info

Cited info

Saved info

Discussed info

Questions or concerns about usage data? Please let us know.