Atypical Findings of Shwachman-Diamond Syndrome in Early Infancy: A Diagnostic Challenge. [PDF]
JPGN Rep, 2022 Marsico C +6 more
europepmc +1 more source
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome. [PDF]
Ann Lab Med, 2023 Lee H +6 more
europepmc +1 more source
Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturation [PDF]
core +1 more source
Expression of Concern: Shwachman-Diamond Syndrome in a Child Presenting With Chronic Diarrhea: A Rare Case in Family Medicine Practice. [PDF]
Cureus, 2022 Alshammari M +14 more
europepmc +1 more source
Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman-Diamond Syndrome Subjects. [PDF]
Int J Mol Sci, 2021 Frattini A +13 more
europepmc +1 more source
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome. [PDF]
Front Genet, 2022 Taha I +12 more
europepmc +1 more source
Editorial: Current Challenges in Immune and Other Acquired Cytopenias of Childhood [PDF]
, 2016 Markus G. Seidel, Sujal Ghosh
core +1 more source
From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development. [PDF]
Clin Pharmacol TherHars ES, McReynolds LJ.
europepmc +1 more source