Associated Papers
Growth Patterns in Shwachman-Diamond Syndrome: Findings from the North American Shwachman-Diamond Syndrome Registry.
Schwarz L et al.
The Journal of Pediatrics, 2025
Structural Implications of Missense Point Mutations in Shwachman-Bodian-Diamond Syndrome Protein (SBDS): A Combined SAXS/MD Investigation.
Mattiotti G et al.
Acs Omega, 2025
Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani E et al.
Blood Advances, 2022
34758064 (PubMed )
Supplement: advancesADV2021005539-suppl1.pdf
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
Warren AJ
Advances in Biological Regulation, 2018
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
Finch AJ et al.
Genes & Development, 2011
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.
Kuijpers TW et al.
Blood, 2005
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