Publication | Open Access

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Developmental BiologyN-terminal Acetyltransferase DeficiencyMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseX-linked Disorder ResultingPediatricsMale InfantsMedicineDisorders Of Sex DevelopmentMolecular Medicine