Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
Journal
The American Journal of Human Genetics
ISSN
0002-9297
Date Issued
2018
Author(s)
Frédéric Ebstein
Sarah K. Nicholas
Marietta M. de Guzman
Lisa R. Forbes
Ivan K. Chinn
Emily M. Mace
Tiphanie P. Vogel
Alexandre F. Carisey
Zeynep H. Coban-Akdemir
Richard A. Gibbs
Shalini N. Jhangiani
Donna M. Muzny
Claudia M.B. Carvalho
Deborah A. Schady
Mahim Jain
Jill A. Rosenfeld
Lisa Emrick
Richard A. Lewis
Brendan Lee
Barbara A. Zieba
Sébastien Küry
Elke Krüger
James R. Lupski
Bret L. Bostwick
Jordan S. Orange
Type
Resource Types::text::journal::journal article
DOI
URL