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Leri’s pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

Authors

  • Siddharth Banka Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK PubMed articlesGoogle scholar articles
  • Stuart A Cain Faculty of Life Sciences, Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  • Sabrya Carim Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK PubMed articlesGoogle scholar articles
  • Sarah B Daly Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK PubMed articlesGoogle scholar articles
  • Jill E Urquhart Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK PubMed articlesGoogle scholar articles
  • Günhan Erdem Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Department of Environmental Health and Biosafety, Health College, Çanakkale Onsekiz Mart University, Çanakkale, Turkey PubMed articlesGoogle scholar articles
  • Jade Harris Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK PubMed articlesGoogle scholar articles
  • Michelle Bottomley Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK PubMed articlesGoogle scholar articles
  • Dian Donnai Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK PubMed articlesGoogle scholar articles
  • Bronwyn Kerr Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK PubMed articlesGoogle scholar articles
  • Helen Kingston Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK PubMed articlesGoogle scholar articles
  • Andreas Superti-Furga Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland PubMed articlesGoogle scholar articles
  • Sheila Unger Department of Genetics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland PubMed articlesGoogle scholar articles
  • Holly Ennis Arthritis Research UK Epidemiology Unit, Centre for Musculoskeletal Research, University of Manchester, MAHSC, Manchester, UK PubMed articlesGoogle scholar articles
  • Jane Worthington Arthritis Research UK Epidemiology Unit, Centre for Musculoskeletal Research, University of Manchester, MAHSC, Manchester, UK NIHR Manchester Musculoskeletal Biomedical Research Unit, Manchester Academy of Health Sciences, Manchester, UK PubMed articlesGoogle scholar articles
  • Ariane L Herrick NIHR Manchester Musculoskeletal Biomedical Research Unit, Manchester Academy of Health Sciences, Manchester, UK PubMed articlesGoogle scholar articles
  • Catherine L R Merry Stem Cell Glycobiology Group, School of Materials, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  • Wyatt W Yue Structural Genomics Consortium, University of Oxford, Oxford, UK PubMed articlesGoogle scholar articles
  • Cay M Kielty Faculty of Life Sciences, Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  • William G Newman Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Siddharth Banka, Manchester Centre for Genomic Medicine, St Mary's Hospital, University of Manchester, Manchester M13 9WL, UK; Siddharth.Banka{at}manchester.ac.uk
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Citation

Banka S, Cain SA, Carim S, et al
Leri’s pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

Publication history

  • Received July 19, 2013
  • Revised January 1, 2014
  • Accepted January 2, 2014
  • First published January 17, 2014.
Online issue publication 
May 08, 2015

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