Associated Papers
Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum.
Pan H et al.
Neurogenetics, 2024
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
García-Cazorla À et al.
Acta Neuropathologica, 2020
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