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      Clinical and Molecular Pathophysiology of Shwachman–Diamond Syndrome: An Update

      research-article
      , MD a , , MBBS, PhD, MRCP b , , MD, PhD c
      Hematology/oncology clinics of North America
      Bone marrow failure, Shwachman–diamond syndrome, Ribosomes

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          SUMMARY

          Many exciting advances in our understanding of SDS have occurred in the past few years; however, our understanding of the natural history and spectrum of disease, diagnosis, and therapy remain limited. Ongoing basic and clinical investigations on larger numbers of patients are crucial to better tie together our evolving comprehension of molecular function and clinical manifestations of this multiorgan disease to affect the treatment of patients with this rare disorder.

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          Author and article information

          Journal
          8709473
          4513
          Hematol Oncol Clin North Am
          Hematol. Oncol. Clin. North Am.
          Hematology/oncology clinics of North America
          0889-8588
          1558-1977
          8 November 2017
          03 November 2012
          February 2013
          17 November 2017
          : 27
          : 1
          : 117-ix
          Affiliations
          [a ]Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children’s Hospital Medical Center, University of Cincinnati, 3333 Burnet Avenue, MLC 7015, Cincinnati, OH 45229, USA
          [b ]Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children’s Hospital Medical Center, University of Cincinnati, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
          [c ]Department of Pediatric Hematology/Oncology, Fred Hutchinson Cancer Research Center, Seattle Children’s Hospital, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA
          Author notes
          [* ]Corresponding author. kasiani.myers@ 123456cchmc.org
          Article
          PMC5693339 PMC5693339 5693339 nihpa917899
          10.1016/j.hoc.2012.10.003
          5693339
          23351992
          f0b34920-4622-4039-b0b0-5dddb7f6f34f
          History
          Categories
          Article

          Bone marrow failure,Shwachman–diamond syndrome,Ribosomes

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