Article
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
The New England journal of medicine - 10 Aug 2017
Shi Hongjun, Enriquez Annabelle, Rapadas Melissa, Martin Ella M M A, Wang Roni, Moreau Julie, Lim Chai K, Szot Justin O, Ip Eddie, Hughes James N, Sugimoto Kotaro, Humphreys David T, McInerney-Leo Aideen M, Leo Paul J, Maghzal Ghassan J, Halliday Jake, Smith Janine, Colley Alison, Mark Paul R, Collins Felicity, Sillence David O, Winlaw David S, Ho Joshua W K, Guillemin Gilles J, Brown Matthew A, Kikuchi Kazu, Thomas Paul Q, Stocker Roland, Giannoulatou Eleni, Chapman Gavin, Duncan Emma L, Sparrow Duncan B, Dunwoodie Sally L
Abstract excerpt
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 pathogenic gene variants in families in...
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