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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Detalles Bibliográficos
Autores principales: Carneiro, Fábio, Duarte, Júlia, Laranjeira, Francisco, Barbosa-Gouveia, Sofia, Couce, María-Luz, Fonseca, Maria José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8430206/
https://www.ncbi.nlm.nih.gov/pubmed/34513772
http://dx.doi.org/10.3389/fped.2021.728077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8430206/
https://www.ncbi.nlm.nih.gov/pubmed/34513772
http://dx.doi.org/10.3389/fped.2021.728077

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