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Shwachman-Diamond Syndrome with Clonal Interstitial Deletion of the Long Arm of Chromosome 20 in Bone Marrow: Haematological Features, Prognosis and Genomic Instability

Roberto Valli,Antonella Minelli,Marta Galbiati,Giovanna D'Amico,Annalisa Frattini,Giuseppe Montalbano,Abdul W. Khan,Giovanni Porta,Giorgia Millefanti,Carla Olivieri,Marco Cipolli,Simone Cesaro,Francesco Pasquali,Cesare Danesino,Gianni Cazzaniga,Emanuela Maserati

British journal of haematology（2018）

引用 21|浏览96
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关键词
Shwachman Diamond syndrome,del(20)(q),genomic instability,EIF6 gene,risk of MDS/AML/BM aplasia
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