De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia
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DOI: 10.1111/bjh.18461
Abstract: In a patient with severe microcephaly, congenital bone marrow failure, growth retardation, and renal hypoplasia, we identified a likely pathogenic variant in NUF2 that impairs the cell's ability to properly complete mitosis. Interestingly, these clinical… read more here.
Keywords: renal hypoplasia; bone marrow; marrow failure;