Compound heterozygous mutations in PUS3 gene identified in a Chinese infant with severe epileptic encephalopathy and multiple malformations.

Hongjun FangLily ZhangBo XiaoHong-Yu LongLiming Yang

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2019)

Keyphrases

early onset
copy number
genome wide
genome wide identification
gene expression
dna methylation
genome wide analysis
drug induced