Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency.

Tianliu PengChao LvHangjing TanJiafeng HuangHailun HeYan WangMinghua ZengDajing YiJie LiHongwen DengXiaobo ShiHong-Mei Xiao

Published in: Journal of assisted reproduction and genetics (2020)

This particular gene modification results in changes in activity of phosphomannomutase modification, which could lead to PMM2-CDG-Ia with an uncommon phenotype.

Keyphrases

intellectual disability
genome wide
autism spectrum disorder
gene expression
genome wide identification
dna methylation
transcription factor