A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene.

Claire Balza Giulia GarofaloTeresa CosJulie DésirXin KangKathelijn KeymolenJulie SobletKim Van BerkelCatheline VilainWafa Ben AbbouMarie Cassart

Published in: Clinical case reports (2021)

Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.

Keyphrases

pregnant women
copy number
genome wide
genome wide identification
gene expression
dna methylation
transcription factor