eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | shwachman diamond syndrome |
| Comorbidity | C0027947|neutropenia |
| Sentences | 2 |
| PubMedID- 26432381 | A novel mouse model provides insights into the neutropenia associated with the ribosomopathy shwachman-diamond syndrome. |
| PubMedID- 26185170 | Here, we established what is to our knowledge the first mammalian model of neutropenia in shwachman-diamond syndrome through targeted downregulation of sbds in hematopoietic stem and progenitor cells expressing the myeloid transcription factor ccaat/enhancer binding protein alpha (cebpa). |
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