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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Detalles Bibliográficos
Autores principales: Pelagiadis, Iordanis, Kyriakidis, Ioannis, Katzilakis, Nikolaos, Kosmeri, Chrysoula, Veltra, Danai, Sofocleous, Christalena, Glentis, Stavros, Kattamis, Antonis, Makis, Alexandros, Stiakaki, Eftichia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10670567/
https://www.ncbi.nlm.nih.gov/pubmed/38002903
http://dx.doi.org/10.3390/children10111812

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