Article
Aberrant early hematopoietic progenitor formation marks the onset of hematopoietic defects in Shwachman-Diamond syndrome.
European journal of haematology - 1 Oct 2024
Lagos-Monzon Alejandra, Ng Stephanie, Luca Alice M, Li Hongbing, Sabanayagam Mathura, Benicio Mariana, Moshiri Houtan, Armstrong Richard, Tailor Chetan, Kennedy Marion, Grunebaum Eyal, Keller Gordon, Dror Yigal
Abstract excerpt
Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure disorder that often presents at infancy. Progress has been made in revealing causal mutated genes (SBDS and others), ribosome defects, and hematopoietic aberrations in SDS. However, the mechanism underlying the hematopoietic failure remained unknown, and treatment options are limited. Herein, we investigated the onset of SDS embryonic...
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