Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Refining the phenotype associated with biallelic <i>DNAJC21</i> mutationsOriginal Research · 2018 · 45 citations
2. 2Loss of Dnajc21 leads to cytopenia and altered nucleotide metabolism in zebrafish2024 · 7 citations
3. 3Expanding the phenotypic spectrum of <scp>DNAJC21</scp> ‐associated bone marrow failure syndrome: A single‐centre experienceOriginal Research · 2026
4. 4[Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene].2024
5. 5Shwachman–Diamond syndrome. Not rare symptoms in a rare patient2024