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Blood. 2014 Jul 17;124(3):312-3. doi: 10.1182/blood-2014-04-571687.

Pearson syndrome in a Diamond-Blackfan anemia cohort.

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1
NATIONAL CANCER INSTITUTE.

Abstract

In this issue of Blood, Gagne et al describe a cohort of 362 patients clinically classified as having Diamond-Blackfan anemia (DBA), in which 175 (48%) were found to have mutations and deletions in ribosomal protein genes or GATA1, and 8 of the remaining patients (2.2% overall) had mitochondrial gene deletions consistent with Pearson marrow-pancreas syndrome (PS). The authors propose that all patients with presumptive DBA should be tested for mitochondrial DNA (mtDNA) deletion during their initial genetic evaluation.

PMID:
25035146
PMCID:
PMC4102705
DOI:
10.1182/blood-2014-04-571687
[Indexed for MEDLINE]
Free PMC Article
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