ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome

Srinath, M; Coberly, E; Ebersol, K; Binz, K; Laziuk, K; Gunning, WT; Gruner, B; Hammer, R; Sathi, BK

Sathi, BK (reprint author), Valley Childrens Hosp, 9300 Valley Childrens Pl, Madera, CA 93636 USA.

PEDIATRIC HEMATOLOGY AND ONCOLOGY, 2019; 36 (4): 236

Abstract

Here we report a case of refractory macrocytic anemia with a spliceosomal point mutation involving the ZRSR2 gene in a child with Down syndrome (DS). ......

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