Clinical and Molecular Pathophysiology of Shwachman–Diamond Syndrome
Author:
Funder
N.I.H.
St. Baldrick’s Foundation
the Butterfly Guild
Publisher
Elsevier BV
Subject
Oncology,Hematology
Reference50 articles.
1. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7;Goobie;Am J Hum Genet,2001
2. Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome;Austin;J Clin Invest,2008
3. Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia;Raaijmakers;Nature,2010
4. Depletion of the Shwachman-Diamond syndrome gene product, SBDS, leads to growth inhibition and increased expression of OPG and VEGF-A;Nihrane;Blood Cells Mol Dis,2009
5. Mutations in SBDS are associated with Shwachman-Diamond syndrome;Boocock;Nat Genet,2003
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