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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...
Autores principales: | Carneiro, Fábio, Duarte, Júlia, Laranjeira, Francisco, Barbosa-Gouveia, Sofia, Couce, María-Luz, Fonseca, Maria José |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
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 |
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