Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

Title
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice
Authors
Keywords
NMD, SMG1, UPF1, brain atrophy, developmental delay, cleft palate, microphthalmia, congenital heart disease
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 98, Issue 4, Pages 643-652
Publisher
Elsevier BV
Online
2016-03-25
DOI
10.1016/j.ajhg.2016.02.010

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