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PedAM

Pediatric Disease Annotations & Medicines




Disease n syndrome
Phenotype C0023462|acute megakaryocytic leukemia
Sentences 3
PubMedID- 23874683 Furthermore, pediatric down syndrome (ds) patients with acute megakaryocytic leukemia (amkl), whose blast cells almost universally harbor somatic mutations in exon 2 of the transcription factor gene gata1, demonstrate increased overall survival relative to non-ds pediatric patients, suggesting a potential role for gata1 in chemotherapy response.
PubMedID- 20007548 The transient myeloproliferative disorder and acute megakaryocytic leukemia associated with down syndrome are uniquely associated with mutations in the transcription factor gata1; however, the identity of trisomic genes on chromosome 21 that predispose to these hematologic disorders remains unknown.
PubMedID- 20589645 acute megakaryocytic leukemia (amkl,fab;m7) with beckwith-wiedemann syndrome.

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