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

In this 2020 study published in the American Journal of Human Genetics, researchers identified bi-allelic mutations in the NADSYN1 gene as a cause of multiple organ defects in individuals with congenital NAD deficiency disorders. The study involved clinical and genetic analyses of affected individuals, revealing that mutations in NADSYN1, which