eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | juvenile myelomonocytic leukemia |
| Comorbidity | C0028326|noonan syndrome |
| Sentences | 3 |
| PubMedID- 24803665 | For example, tartaglia and colleagues assessed ptpn11 (shp2) mutations by comparing somatic mutations in juvenile myelomonocytic leukaemia (jmml) with noonan syndrome germline mutations, and they identified a greater activation of the ras/mapk activation for the jmml‐associated mutations (tartaglia et al, 2003). |
| PubMedID- 25358541 | The disorder was named "cbl syndrome" or "noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" (nsll). |
| PubMedID- 22315187 | Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with noonan syndrome carrying the germline ptpn11 mutation p.e139d. |
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