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

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1 Published in 2019 at "Pediatric Hematology and Oncology"

DOI: 10.1080/08880018.2019.1621969

Abstract: 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). Such mutations have been shown to cause refractory macrocytic… read more here.

Keywords: anemia; zrsr2 mutation; macrocytic anemia; refractory macrocytic ... See more keywords