Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant

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...

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Principais autores:	Fábio Carneiro, Júlia Duarte, Francisco Laranjeira, Sofia Barbosa-Gouveia, María-Luz Couce, Maria José Fonseca
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Frontiers Media S.A. 2021-08-01
סדרה:	Frontiers in Pediatrics
נושאים:	ADGRG1 bilateral generalized polymicrogyria GPR56 polymicrogyria bilateral frontoparietal polymicrogyria case report
גישה מקוונת:	https://www.frontiersin.org/articles/10.3389/fped.2021.728077/full
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