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Article

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.

Blood - 17 Aug 2023

Molteni Elisabetta, Bono Elisa, Gallì Anna, Elena Chiara, Ferrari Jacqueline, Fiorelli Nicolas, Pozzi Sara, Ferretti Virginia Valeria, Sarchi Martina, Rizzo Ettore, Camilotto Virginia, Boveri Emanuela, Cazzola Mario, Malcovati Luca

Abstract excerpt

Systematic studies of germ line genetic predisposition to myeloid neoplasms in adult patients are still limited. In this work, we performed germ line and somatic targeted sequencing in a cohort of adult patients with hypoplastic bone marrow (BM) to study germ line predisposition variants and their clinical correlates. The study population included 402 consecutive adult patients investigated for unexplained...

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Identifiers

PMID: 37216690
DOI: 10.1182/blood.2022019304
PMCID: PMC10644067

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