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Article

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.

Journal of pediatric hematology/oncology - 1 Oct 2016

Steinberg-Shemer Orna, Keel Siobán, Dgany Orly, Walsh Tom, Noy-Lotan Sharon, Krasnov Tanya, Yacobovich Joanne, Quarello Paola, Ramenghi Ugo, King Mary-Claire, Shimamura Akiko, Tamary Hannah

Abstract excerpt

Diamond Blackfan anemia (DBA) is an inherited syndrome usually presenting with severe macrocytic anemia in infancy, paucity of erythroid precursors in the bone marrow, and congenital anomalies. We describe a child with mild, transfusion independent normocytic anemia whose diagnosis of DBA was established by identification of a novel de novo mutation disrupting normal splicing of the ribosomal protein RPL5. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27258031
DOI: 10.1097/MPH.0000000000000587
PMCID: PMC5033710

Genes

RPL5

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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