Publication | Open Access

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder

Developmental BiologyMendelian DisorderBrain DevelopmentGenetic DisorderGeneticsEnzyme InvolvedMolecular BiologyDeoxyhypusine SynthaseRecessive Rare VariantsAbnormal DevelopmentMedicineNeurogenetics