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
Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani E et al.
Blood Advances, 2022
34758064 (PubMed )
Supplement: advancesADV2021005539-suppl1.pdf
Somatic genetic rescue of a germline ribosome assembly defect.
Tan S et al.
Nature Communications, 2021
34413298 (PubMed )
Supplement: 41467_2021_24999_MOESM2_ESM.xlsx › Feuil1
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.
Shammas C et al.
The Journal of Biological Chemistry, 2005
Identification of novel mutations in patients with Shwachman-Diamond syndrome.
Nicolis E et al.
Human Mutation, 2005
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.
Woloszynek JR et al.
Blood, 2004
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0
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