Article info

Original research
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Authors

  • Anthony M Vandersteen Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada Faculty of Medicine, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK PubMed articlesGoogle scholar articles
  • Ruwan A Weerakkody Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK Institute of Clinical Sciences, Imperial College London, London, UK Department of Vascular Surgery, Royal Free Hospital, London, UK PubMed articlesGoogle scholar articles
  • David A Parry Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK PubMed articlesGoogle scholar articles
  • Christina Kanonidou Department of Clinical Biochemistry, Queen Elizabeth University Hospital, NHS Greater Glasgow and Clyde, Glasgow, UK PubMed articlesGoogle scholar articles
  • Daniel J Toddie-Moore Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK PubMed articlesGoogle scholar articles
  • Jana Vandrovcova Department of Neuromuscular Diseases, UCL Queen Street Institute of Neurology, University College London, London, UK PubMed articlesGoogle scholar articles
  • Rebecca Darlay Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Javier Santoyo-Lopez Edinburgh Genomics, University of Edinburgh, Edinburgh, UK PubMed articlesGoogle scholar articles
  • Alison Meynert MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK PubMed articlesGoogle scholar articles
  • Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK Google scholar articles
  • Hanadi Kazkaz Department of Rheumatology, University College London Hospitals NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Rodney Grahame Department of Rheumatology, University College London Hospitals NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  • Carole Cummings Ehlers-Danlos Syndrome National Diagnostic Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK Department of Metabolism, Digestion and Reproduction Section of Genetics and Genomics, Imperial College London, London, UK PubMed articlesGoogle scholar articles
  • Marion Bartlett Ehlers-Danlos Syndrome National Diagnostic Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK Department of Metabolism, Digestion and Reproduction Section of Genetics and Genomics, Imperial College London, London, UK PubMed articlesGoogle scholar articles
  • Neeti Ghali Ehlers-Danlos Syndrome National Diagnostic Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK Department of Metabolism, Digestion and Reproduction Section of Genetics and Genomics, Imperial College London, London, UK PubMed articlesGoogle scholar articles
  • Angela F Brady Ehlers-Danlos Syndrome National Diagnostic Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK Department of Metabolism, Digestion and Reproduction Section of Genetics and Genomics, Imperial College London, London, UK PubMed articlesGoogle scholar articles
  • F Michael Pope Ehlers-Danlos Syndrome National Diagnostic Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK Department of Metabolism, Digestion and Reproduction Section of Genetics and Genomics, Imperial College London, London, UK PubMed articlesGoogle scholar articles
  • Fleur S van Dijk Ehlers-Danlos Syndrome National Diagnostic Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK Department of Metabolism, Digestion and Reproduction Section of Genetics and Genomics, Imperial College London, London, UK PubMed articlesGoogle scholar articles
  • Heather J Cordell Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, UK PubMed articlesGoogle scholar articles
  • Timothy J Aitman Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Timothy J Aitman, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, UK; tim.aitman{at}ed.ac.uk; Dr Anthony M Vandersteen; anthony.vandersteen{at}dal.ca
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Citation

Vandersteen AM, Weerakkody RA, Parry DA, et al
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Publication history

  • Received April 10, 2023
  • Accepted September 18, 2023
  • First published October 9, 2023.
Online issue publication 
February 21, 2024

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