Entries by Emma

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

August 14, 2017 in , , /by

BACKGROUND Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. METHODS We used genomic sequencing to identify potentially […]