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

• Evgeny A. Glazov ,

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

  * E-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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• Andreas Zankl ,

  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

  * E-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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