A digenic defect involving CUBN and MTHFR produced functional B12/folate deficiency in a patient with pancytopenia and neurological signs, mimicking myelodysplasia. Genetic and metabolic screening revealed elevated methylmalonic acid/homocysteine, with rapid remission post‐parenteral B12. This case highlights the need for metabolic/genetic workup in atypical cytopenias.
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Cluzeau et al. (2026) studied this question.
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