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Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances

21 Dec 2022

Abstract excerpt

Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to myeloid malignancies. The pathobiology of SDS results from impaired ribosomal maturation due to the deficiency of SBDS and the inability to evict the antiassociation factor eIF6 from the 60S ribosomal subunit. Clinical outcomes for patients with SDS...

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PMID: 36542827
DOI: 10.1182/blood.2022017739

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