Article
Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype.
Blood - 26 May 2022
Hasle Henrik, Kline Ronald M, Kjeldsen Eigil, Nik-Abdul-Rashid Nik F, Bhojwani Deepa, Verboon Jeffrey M, DiTroia Stephanie P, Chao Katherine R, Raaschou-Jensen Klas, Palle Josefine, Zwaan C Michel, Nyvold Charlotte Guldborg, Sankaran Vijay G, Cantor Alan B
Abstract excerpt
Individuals with Down syndrome are at increased risk of myeloid leukemia in early childhood, which is associated with acquisition of GATA1 mutations that generate a short GATA1 isoform called GATA1s. Germline GATA1s-generating mutations result in congenital anemia in males. We report on 2 unrelated families that harbor germline GATA1s-generating mutations in which several members developed acute megakaryoblastic...
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