A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
Claire Balza, G. Garofalo, T. Cos, Julie Désir, Xin Kang, Kathelijn Keymolen, Julie Soblet, Kim Van Berkel, Catheline Vilain, Wafa Ben Abbou, Marie Cassart
Abstract
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.
Topics & Concepts
LissencephalyCerebellar hypoplasia (non-human)MedicineHypoplasiaPrenatal diagnosisCerebellumMutationPathologyFetusAnatomyGeneGeneticsPregnancyInternal medicineBiologyFetal and Pediatric Neurological DisordersCancer-related molecular mechanisms researchRNA regulation and disease