Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

Abstract 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....

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Bibliographic Details
Main Authors: Carla De Angelis, Alicia B. Byrne, Rebecca Morrow, Jinghua Feng, Thuong Ha, Paul Wang, Andreas W. Schreiber, Milena Babic, Ajay Taranath, Nick Manton, Sarah L. King-Smith, Quenten Schwarz, Peer Arts, Hamish S. Scott, Christopher Barnett
Format: Article
Language:English
Published: BMC 2021-02-01
Series:BMC Medical Genomics
Subjects:
LAMC3
Periventricular nodular heterotopia
Occipital
Lobe
Case report
Online Access:https://doi.org/10.1186/s12920-021-00911-4

Internet

https://doi.org/10.1186/s12920-021-00911-4

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