Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

Published 2018 View Full Article

Authors

Keywords

intellectual disability, neurodevelopmental delay, growth delay, speech delay, microcephaly, aggressive behavior, pseudouridylation, tRNA, mRNA substrates, Drosophila melanogaster

Journal

AMERICAN JOURNAL OF HUMAN GENETICS

Volume 103, Issue 6, Pages 1045-1052

Publisher

Elsevier BV

Online

2018-12-06

DOI

10.1016/j.ajhg.2018.10.026

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