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Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes

8 Dec 2017

Abstract excerpt

Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and/or other physical features that are often recognizable early in life. However, increasing application of genomic sequencing and clinical awareness of subtle disease presentations have led to the recognition of IBMFS in pediatric and adult populations more...

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PMID: 29222240
DOI: 10.1182/asheducation-2017.1.79

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