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Article

Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.

American journal of hematology - 1 Sept 2021

Miano Maurizio, Grossi Alice, Dell'Orso Gianluca, Lanciotti Marina, Fioredda Francesca, Palmisani Elena, Lanza Tiziana, Guardo Daniela, Beccaria Andrea, Ravera Silvia, Cossu Vanessa, Terranova Paola, Giona Fiorina, Santopietro Michelina, Cappelli Enrico, Ceccherini Isabella, Dufour Carlo

Abstract excerpt

The differential diagnosis of marrow failure (MF) is crucial in the diagnostic work-up, since genetic forms require specific care. We retrospectively studied all patients with single/multi-lineage MF evaluated in a single-center to identify the type and incidence of underlying molecular defects. The diepoxybutane test was used to screen Fanconi Anemia. Other congenital MFs have been searched using Sanger and/or...

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Identifiers

PMID: 34000087
DOI: 10.1002/ajh.26242

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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