Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant

• Asıl Yazarlar: Fábio Carneiro (Yazar), Júlia Duarte (Yazar), Francisco Laranjeira (Yazar), Sofia Barbosa-Gouveia (Yazar), María-Luz Couce (Yazar), Maria José Fonseca (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2021-08-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...