Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
- Resource Type
- Journal
- Authors
- Poli, M. Cecilia; Ebstein, Frederic; Nicholas, Sarah K.; de Guzman, Marietta M.; Forbes, Lisa R.; Chinn, Ivan K.; Mace, Emily M.; Vogel, Tiphanie P.; Carisey, Alexandre F.; Benavides, Felipe; Coban-Akdemir, Zeynep H.; Gibbs, Richard A.; Jhangiani, Shalini N.; Muzny, Donna M.; Carvalho, Claudia M. B.; Schady, Deborah A.; Jain, Mahim; Rosenfeld, Jill A.; Emrick, Lisa; Lewis, Richard A.; Lee, Brendan; Zieba, Barbara A.; Kury, Sebastien; Krueger, Elke; Lupski, James R.; Bostwick, Bret L.; Orange, Jordan S.; Undiagnosed Dis Network
- Source
- AMERICAN JOURNAL OF HUMAN GENETICS; JUN 7 2018, 102 6, p1126-p1142, 17p.
- Subject
- Language
- English
- ISSN
- 15376605