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Original article
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

Authors

  • Lisa Jean Ewans St Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, New South Wales, Australia Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Alison Colley Clinical Genetics Department, Liverpool Hospital, Liverpool, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Carles Gaston-Massuet Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London, UK PubMed articlesGoogle scholar articles
  • Angelica Gualtieri Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London, UK PubMed articlesGoogle scholar articles
  • Mark J Cowley St Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, New South Wales, Australia Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Mark James McCabe St Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, New South Wales, Australia Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Deepti Anand Department of Biological Sciences, University of Delaware, Newark, Delaware, USA PubMed articlesGoogle scholar articles
  • Salil A Lachke Department of Biological Sciences, University of Delaware, Newark, Delaware, USA Center for Bioinformatics and Computational Biology, University of Delaware, Newark, Delaware, USA PubMed articlesGoogle scholar articles
  • Luigi Scietti Department of Biology and Biotechnology, Universita degli Studi di Pavia, Pavia, Lombardia, Italy PubMed articlesGoogle scholar articles
  • Federico Forneris Department of Biology and Biotechnology, Universita degli Studi di Pavia, Pavia, Lombardia, Italy PubMed articlesGoogle scholar articles
  • Ying Zhu Newcastle GOLD Service, Hunter Genetics, Waratah, New South Wales, Australia NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Kevin Ying Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Corrina Walsh NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Edwin P Kirk NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia School of Women’s and Children’s Health, University of New South Wales, Randwick, New South Wales, Australia PubMed articlesGoogle scholar articles
  • David Miller Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Cecilia Giunta Connective Tissue Unit, Division of Metabolism, University Children’s Hospital Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • David Sillence Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Marcel Dinger Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia School of Biotechnology and Biomolecular Sciences, University of New South Wales, Kensington Campus, Sydney, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Michael Buckley NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Tony Roscioli NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Lisa Jean Ewans, St Vincent's Clinical School, University of New South Wales, Darlinghurst, NSW 2010, Australia; lisa.ewans{at}gmail.com
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Citation

Ewans LJ, Colley A, Gaston-Massuet C, et al
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

Publication history

  • Received January 17, 2019
  • Revised March 28, 2019
  • Accepted April 25, 2019
  • First published May 25, 2019.
Online issue publication 
August 21, 2019

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