Article
Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia.
Genes - 26 Dec 2021
Lipton Jeffrey M, Molmenti Christine L S, Desai Pooja, Lipton Alexander, Ellis Steven R, Vlachos Adrianna
Abstract excerpt
Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome, the founding member of a class of disorders known as ribosomopathies. Most cases result from loss of function mutations or deletions in 1 of 23 genes encoding either a small or large subunit-associated ribosomal protein (RP), resulting in RP haploinsufficiency. DBA is characterized by red cell hypoplasia or aplasia, poor linear growth...
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