Myelodysplastic syndrome with activating RRAS mutation; expanding the phenotype of pediatric RASopathies
59 MDW San Antonio United States
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The RASmitogen-activated protein kinase MAPK is an essential pathway that controls early and late developmental processes via regulation of cell proliferation, differentiation, apoptosis, and senescence. Dysregulation of this pathway has been shown to cause overlapping genetic disorders, RASopathies, which typically present with cardiac defects, facial dysmorphism, skeletal anomalies, variable cognitive defects, and increased risk for certain hematologic malignancies. We describe a novel pediatric case of myelodysplastic syndrome MDS, Rasopathy clinical spectrum and activating germline RRAS mutation.
- Medicine and Medical Research
- Genetic Engineering and Molecular Biology