Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Ricarda Flöttmann; Johannes Wagner; Karolina Kobus; Cynthia J Curry; Ravi Savarirayan; Gen Nishimura; Natsuo Yasui; Jürgen Spranger; Hilde Van Esch; Michael J Lyons; Barbara R DuPont; Alka Dwivedi; Eva Klopocki; Denise Horn; Stefan Mundlos; Malte Spielmann

doi:10.1136/jmedgenet-2015-103108

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Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

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Ricarda Flöttmann Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany PubMed articles Google scholar articles
Johannes Wagner Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany PubMed articles Google scholar articles
Karolina Kobus Max Planck Institute for Molecular Genetics, Berlin, Germany PubMed articles Google scholar articles
Cynthia J Curry Institute for Clinical Genetics, UCFS Fresno, California, USA PubMed articles Google scholar articles
Ravi Savarirayan Victorian Clinical Genetics Service, Royal Children's Hospital, Melbourne, Victoria, Australia PubMed articles Google scholar articles
Gen Nishimura Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan PubMed articles Google scholar articles
Natsuo Yasui Tokushima University Hospital, Tokushima, Japan PubMed articles Google scholar articles
Jürgen Spranger Children's Hospital, University of Mainz, Mainz, Germany PubMed articles Google scholar articles
Hilde Van Esch Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium PubMed articles Google scholar articles
Michael J Lyons Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Barbara R DuPont Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Alka Dwivedi Greenwood Genetic Center, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Eva Klopocki Institute for Human Genetics, Biozentrum, Universität Würzburg, Würzburg, Germany PubMed articles Google scholar articles
Denise Horn Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany PubMed articles Google scholar articles
Stefan Mundlos Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany Max Planck Institute for Molecular Genetics, Berlin, Germany Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany PubMed articles Google scholar articles
Malte Spielmann Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany Max Planck Institute for Molecular Genetics, Berlin, Germany Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany PubMed articles Google scholar articles

Correspondence to Dr Malte Spielmann, Institute for Medical Genetics and Human Genetics, Charité—Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; malte.spielmann{at}charite.de

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Flöttmann R, Wagner J, Kobus K, et al

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Journal of Medical Genetics 2015;52:476-483.

Publication history

Received March 6, 2015
Revised April 28, 2015
Accepted May 9, 2015
First published June 1, 2015.

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April 27, 2016

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