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
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
38374498 (PubMed )
Supplement: EMS195231-supplement-Supplementary_tables.xlsx › S3_Published
Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.
Majethia P et al.
European Journal of Medical Genetics, 2022
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