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

出版年份 2018 全文链接

标题

作者

关键词

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

出版物

AMERICAN JOURNAL OF HUMAN GENETICS

Volume 103, Issue 6, Pages 1045-1052

出版商

Elsevier BV

发表日期

2018-12-06

DOI

10.1016/j.ajhg.2018.10.026

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