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Article

Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.

Pediatric blood & cancer - 1 Sept 2015

Smetanina Natalia S, Mersiyanova Irina V, Kurnikova Maria A, Ovsyannikova Galina S, Hachatryan Lili A, Bobrynina Vlasta O, Maschan Michael A, Novichkova Galina A, Lipton Jeffrey M, Maschan Alexey A

Abstract excerpt

BACKGROUND: Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous ribosomopathy and inherited bone marrow failure syndrome characterized by anemia, reticulocytopenia, and decreased erythroid precursors in the bone marrow with an increased risk of malignancy and, in approximately 50%, physical abnormalities. METHODS: We retrospectively analyzed clinical data from 77 patients with DBA born in...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heart Defects, Congenital

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Source

Open in PubMed Open full text

Identifiers

PMID: 25946618
DOI: 10.1002/pbc.25534
PMCID: PMC4515145

Genes

RPS19
GATA1
RPL11
RPL5
RPS10
RPS24
RPS26
RPS7
RPS17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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