Article

Genetic testing facilitates correct diagnosis and directs management of unexplained pediatric chronic cytopenia: case presentations of rare Inherited Bone Marrow Syndrome (ERCC6L2-associated disease)

2024-08-24

Abstract excerpt

Despite thorough medical assessment, diagnosis of inherited bone marrow failure syndrome (IBMFS) is often significantly delayed. Genomic investigations have been more often used to facilitate correct diagnosis and guide management in unexplained childhood cytopenias. We present two cases of unrelated adolescent girls with bicytopenia, unremarkable medical history and normal physical features who were diagnosed wit...

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Literature Corpus work: 5e1e6d96-11e3-5fdc-882b-77da2cfa5e67
DOI: 10.22541/au.172448951.12504608/v1

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