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Genetic and clinical spectrum of SAMD9 and SAMD9L syndromes: from variant interpretation to patient management

30 Oct 2024

Abstract excerpt

ABSTRACT: Sterile alpha motif domain-containing protein 9 (SAMD9) and SAMD9-like (SAMD9L) are paralogous genes encoding antiviral proteins that negatively regulate cell proliferation. Heterozygous germ line gain-of-function (GoF) SAMD9/9L variants cause multisystem syndromes with variable manifestations. The unifying features are cytopenia, immunodeficiency, infections, bone marrow failure, myelodysplasia, and...

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PMID: 39475954
DOI: 10.1182/blood.2022017717

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