Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant

• Hoofdauteurs: Fábio Carneiro (Auteur), Júlia Duarte (Auteur), Francisco Laranjeira (Auteur), Sofia Barbosa-Gouveia (Auteur), María-Luz Couce (Auteur), Maria José Fonseca (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2021-08-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...