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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease down syndrome
Comorbidity C0023462|acute megakaryoblastic leukemia
Sentences 7
PubMedID- 25361478 acute megakaryoblastic leukemia associated with trisomy 21 demonstrates a distinct immunophenotype.
PubMedID- 25302938 acute megakaryoblastic leukemia associated with trisomy 21 demonstrates a distinct immunophenotype.
PubMedID- 25266042 acute megakaryoblastic leukemia with acquired trisomy 21 and gata1 mutations in phenotypically normal children.
PubMedID- 25932450 A case of pentasomy 21 with two isochromosome 21s in acute megakaryoblastic leukemia associated with down syndrome.
PubMedID- 23467713 One case of acute megakaryoblastic leukemia (amkl) with trisomy 21, trisomy 14 and unmutated gata1 gene in a phenotypically normal girl was reported.
PubMedID- 22937757 In particular, the somatic mutation of the gata1 gene, which leads to the production of n-terminally truncated gata1, contributes to the genesis of transient myeloproliferative disorder and acute megakaryoblastic leukemia in infants with down syndrome.
PubMedID- 23980066 Development of acute megakaryoblastic leukemia in down syndrome is associated with sequential epigenetic changes.

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