Perinatal-Lethal Non-Immune Fetal Hydrops Attributed to MECOM-associated Bone Marrow Failure.
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DOI: 10.1101/mcs.a006289
Abstract: Pathogenic variants in MECOM, a gene critical to the self-renewal and proliferation of hematopoietic stem cells, are known to cause a rare bone marrow failure syndrome associated with amegakaryocytic thrombocytopenia and bilateral radioulnar synostosis known… read more here.
Keywords: bone marrow; marrow failure; mecom associated; fetal hydrops ... See more keywords