Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Purvi Majethia(Manipal Academy of Higher Education), Anju Shukla(Manipal Academy of Higher Education), B.L. Yatheesha, Shahyan Siddiqui(Yashoda Hospital), Vivekananda Bhat(Manipal Academy of Higher Education)
Cited by 9
Related Papers
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
|Brain|2018|71
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling
|European Journal of Human Genetics|2021|43
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>
|Neurology|2022|23
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
|European Journal of Human Genetics|2023|18
NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature
|European Journal of Medical Genetics|2021|16