PedAM
Pediatric Disease Annotations & Medicines
| Disease | severe combined immunodeficiency |
| Phenotype | C0079731|b cell lymphoma |
| Sentences | 1 |
| PubMedID- 22529269 | Unexpectedly however, six patients with hypomorphic mutations in artemis have been identified so far that have either partial or complete deletion of the c-terminal region, and two of them present rs-scid associated with predisposition to b cell lymphoma (moshous et al., 2003; musio et al., 2005; van der burg et al., 2007). |
Page: 1