Publication | Open Access

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

Bi-allelic MutationsDevelopmental BiologySomatic VariantMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseMolecular GeneticsGenotypic SpectrumDisease Gene IdentificationMedicineClinical Genetics