PedAM
Pediatric Disease Annotations & Medicines
| Disease | neutropenia |
| Phenotype | C0272170|shwachman-diamond syndrome |
| 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). |
Page: 1