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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease c syndrome
Comorbidity C0740302|5q- syndrome
Sentences 3
PubMedID- 20882441 Recently, the 5q- syndrome, a subtype of myelodysplastic syndrome characterized by a defect in erythroid differentiation, is caused by a somatically acquired deletion of chromosome 5q, which results in haploinsufficiency of rps14.
PubMedID- 21156233 Cytogenetic features of 5q deletion and 5q- syndrome in myelodysplastic syndrome in korea; marker chromosomes proved to be chromosome 5 with interstitial deletion by fluorescence in situ hybridization.
PubMedID- 19898489 5q- syndrome is a subtype of myelodysplastic syndrome characterized by severe anemia and variable neutropenia but normal or high platelet counts with dysplastic megakaryocytes.

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