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10.1186/s12883-017-0827-0 Summary Keywords MTHFR , non-sense mutation, white matter disease, microcephaly, severe methylenetetrahydrofolate reductase deficiency Citation Massadeh S, Umair M, Alaamery M and Alfadhel M (2019) A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency