Posters
S. Niranjan Shekar, Ph.D. et al, Fabric Genomics
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency
See how Fabric Genomics’ (formerly Omicia) Opal and Omicia’s VAAST Trio Report algorithm was used.