Duplications upstream and downstream of SHOX identified as novel causes of Leri–Weill dyschondrosteosis or idiopathic short stature

David J Bunyan,Maria Baffico,L Capone,S Vannelli,Lorenzo Iughetti,Sebastien Schmitt,Emmajane Taylor, Adam A Herridge,Debbie Shears,Antonino Forabosco,Domenico A Coviello

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2016）

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SHOX,Duplication,Regulatory element

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