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Article

Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.

Pediatric blood & cancer - 1 Dec 2014

Delaporta Polyxeni, Sofocleous Christalena, Stiakaki Eftichia, Polychronopoulou Sophia, Economou Marina, Kossiva Lydia, Kostaridou Stavroula, Kattamis Antonis

Abstract excerpt

BACKGROUND: Diamond Blackfan Anemia (DBA) is a rare congenital, bone marrow failure syndrome characterized by normochromic macrocytic anemia, reticulocytopenia and absence or insufficiency of erythroid precursors in normocellular bone marrow, frequently associated with somatic malformations. Here, we present our findings from the study of 17 patients recorded in the Greek DBA registry. PROCEDURE: Clinical...

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Source

Identifiers

PMID: 25132370
DOI: 10.1002/pbc.25183

Genes

RPL5
RPL11
RPS19

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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