Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

TitleHeterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Publication TypeJournal Article
AuthorsM Poli, C, Ebstein, F, Nicholas, SK, de Guzman, MM, Forbes, LR, Chinn, IK, Mace, EM, Vogel, TP, Carisey, AF, Benavides, F, Coban-Akdemir, ZH, Gibbs, RA, Jhangiani, SN, Muzny, DM, Carvalho, CMB, Schady, DA, Jain, M, Rosenfeld, JA, Emrick, L, Lewis, RA, Lee, B, Zieba, BA, Küry, S, Krüger, E, Lupski, JR, Bostwick, BL, Orange, JS
Corporate AuthorsUndiagnosed Diseases Network members
PubMed ID29805043
PubMed Central IDPMC5992134
Grant ListR01 AI120989 / AI / NIAID NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States
R35 NS105078 / NS / NINDS NIH HHS / United States
U01 HG007709 / HG / NHGRI NIH HHS / United States