Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review.

Li TanBo BiPeiwei ZhaoXiaonan CaiChunhui WanJianbo ShaoXuelian He

Published in: BMC medical genetics (2017)

This is the first Chinese reported with microcephaly caused by NDE1 mutations. NDE1 is a critical pathogenetic gene in severe congenital microcephaly. Sequencing NDE1 and CMA in patients with severe congenital microcephaly may be warranted.

Keyphrases

zika virus
intellectual disability
early onset
autism spectrum disorder
drug induced
genome wide
copy number
dna methylation