Article
Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.
BMC medical genomics - 27 Feb 2021
De Angelis Carla, Byrne Alicia B, Morrow Rebecca, Feng Jinghua, Ha Thuong, Wang Paul, Schreiber Andreas W, Babic Milena, Taranath Ajay, Manton Nick, King-Smith Sarah L, Schwarz Quenten, Arts Peer, Scott Hamish S, Barnett Christopher
Abstract excerpt
BACKGROUND: Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH. CASE PRESENTATION: We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3...
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