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Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6

22 Oct 2021

Abstract excerpt

Septins play key roles in mammalian cell division and cytokinesis but have not previously been implicated in a germline human disorder. A male infant with severe neutropenia and progressive dysmyelopoiesis with tetraploid myeloid precursors was identified. No known genetic etiologies for neutropenia or bone marrow failure were found. However, next-generation sequencing of germline samples from the patient...

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PMID: 34677878
DOI: 10.1002/ajh.26382

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Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6PMID 34677878Read ↗

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