Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant

• Main Authors: Fábio Carneiro (Author), Júlia Duarte (Author), Francisco Laranjeira (Author), Sofia Barbosa-Gouveia (Author), María-Luz Couce (Author), Maria José Fonseca (Author)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2021-08-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Pathogenic variants of the ADGRG1 gene are associated with bilateral frontoparietal polymicrogyria, defined radiologically by polymicrogyria with an anterior-posterior gradient, pontine and cerebellar hypoplasia and patchy white matter abnormalities. We report a novel homozygous ADGRG1 variant with...