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Duplications upstream and downstream of SHOX identified as novel causes of Leri–Weill dyschondrosteosis or idiopathic short stature
Authors:David J. Bunyan  Maria Baffico  Lucia Capone  Silvia Vannelli  Lorenzo Iughetti  Sébastien Schmitt  Emma‐Jane Taylor  Adam A. Herridge  Deborah Shears  Antonino Forabosco  Domenico A. Coviello
Affiliation:1. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom;2. Correspondence to:;3. David J. Bunyan, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK.;4. E‐mail:;5. Laboratory of Human Genetics, E.O. Ospedali Galliera, Genoa, Italy;6. Genomic Research Center, Cante di Montevecchio, Fano PU, Italy;7. Auxologic Unit, University of Turin, Turin, Italy;8. Department of Medical and Surgical Sciences of Mothers, Children, and Adults, University of Modena and Reggio Emilia, Modena MO, Italy;9. Laboratory of Molecular Genetics, Institute of Biology, CHU de Nantes, Nantes, France;10. Clinical Genetics, Churchill Hospital, Oxford, Oxfordshire, United Kingdom
Abstract:
Keywords:SHOX  Duplication  Regulatory element
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