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Article

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Haematologica - 1 Jan 2015

Zhang Michael Y, Keel Siobán B, Walsh Tom, Lee Ming K, Gulsuner Suleyman, Watts Amanda C, Pritchard Colin C, Salipante Stephen J, Jeng Michael R, Hofmann Inga, Williams David A, Fleming Mark D, Abkowitz Janis L, King Mary-Claire, Shimamura Akiko

Abstract excerpt

Accurate and timely diagnosis of inherited bone marrow failure and inherited myelodysplastic syndromes is essential to guide clinical management. Distinguishing inherited from acquired bone marrow failure/myelodysplastic syndrome poses a significant clinical challenge. At present, diagnostic gene...

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Source

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Identifiers

PMID: 25239263
DOI: 10.3324/haematol.2014.113456
PMCID: PMC4281311

Genes

DKC1
GATA2
LIG4
RUNX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25239263-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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