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Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type
  1. Ricarda Flöttmann1,
  2. Johannes Wagner1,
  3. Karolina Kobus2,
  4. Cynthia J Curry3,
  5. Ravi Savarirayan4,
  6. Gen Nishimura5,
  7. Natsuo Yasui6,
  8. Jürgen Spranger7,
  9. Hilde Van Esch8,
  10. Michael J Lyons9,
  11. Barbara R DuPont9,
  12. Alka Dwivedi9,
  13. Eva Klopocki10,
  14. Denise Horn1,
  15. Stefan Mundlos1,2,11,
  16. Malte Spielmann1,2,11
  1. 1Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany
  2. 2Max Planck Institute for Molecular Genetics, Berlin, Germany
  3. 3Institute for Clinical Genetics, UCFS Fresno, California, USA
  4. 4Victorian Clinical Genetics Service, Royal Children's Hospital, Melbourne, Victoria, Australia
  5. 5Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan
  6. 6Tokushima University Hospital, Tokushima, Japan
  7. 7Children's Hospital, University of Mainz, Mainz, Germany
  8. 8Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium
  9. 9Greenwood Genetic Center, Greenwood, South Carolina, USA
  10. 10Institute for Human Genetics, Biozentrum, Universität Würzburg, Würzburg, Germany
  11. 11Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany
  1. Correspondence to Dr Malte Spielmann, Institute for Medical Genetics and Human Genetics, Charité—Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; malte.spielmann{at}

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