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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Bibliographic Details
Main Authors: Iordanis Pelagiadis, Ioannis Kyriakidis, Nikolaos Katzilakis, Chrysoula Kosmeri, Danai Veltra, Christalena Sofocleous, Stavros Glentis, Antonis Kattamis, Alexandros Makis, Eftichia Stiakaki
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Children
Subjects:
Diamond–Blackfan anemia
splicing
splice variants
mutation
ribosome
ribosomal proteins
Online Access:https://www.mdpi.com/2227-9067/10/11/1812

Internet

https://www.mdpi.com/2227-9067/10/11/1812

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