Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.

Peiwei ZhaoLei ZhangLi TanSukun LuoYufeng HuangHanming PengJiangxia CaoXuelian He

Published in: Molecular genetics & genomic medicine (2021)

Our work broadens the mutation spectrum of COG6 gene and states the importance of whole-exome sequencing in facilitating the definitive diagnosis of this disorder and prenatal diagnosis in a subsequent pregnancy.

Keyphrases

zika virus
intellectual disability
preterm birth
copy number
genome wide
locally advanced
pregnancy outcomes
radiation therapy
gene expression
rectal cancer