The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review

The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review

Diamond-Blackfan anemia (DBA) is a ribosomopathy characterized by bone marrow erythroid hypoplasia, which typically presents with severe anemia within the first months of life. DBA is typically attributed to a heterozygous mutation in a ribosomal protein (RP) gene along with a defect in the ribosoma...

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Main Authors: Iordanis Pelagiadis (Author), Ioannis Kyriakidis (Author), Nikolaos Katzilakis (Author), Chrysoula Kosmeri (Author), Danai Veltra (Author), Christalena Sofocleous (Author), Stavros Glentis (Author), Antonis Kattamis (Author), Alexandros Makis (Author), Eftichia Stiakaki (Author)
Format: Book
Published: MDPI AG, 2023-11-01T00:00:00Z.
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3rd Floor Main Library

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