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Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review
Background: Malformations of cortical development (MCDs) can lead to peculiar neuroradiological patterns and clinical presentations (i.e., seizures, cerebral palsy, and intellectual disability) according to the specific genetic pathway of the brain development involved; and yet a certain degree of p...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9852726/ https://www.ncbi.nlm.nih.gov/pubmed/36685914 http://dx.doi.org/10.3389/fgene.2022.990350 |