Aicardi Syndrome Is a Genetically Heterogeneous Disorder

Aicardi Syndrome (AIC) is a rare neurodevelopmental disorder recognized by the classical triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile epileptic spasms syndrome. The diagnostic criteria of AIC were revised in 2005 to include additional phenotypes that are frequently o...

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Detalles Bibliográficos
Autores principales: Ha, Thuong T., Burgess, Rosemary, Newman, Morgan, Moey, Ching, Mandelstam, Simone A., Gardner, Alison E., Ivancevic, Atma M., Pham, Duyen, Kumar, Raman, Smith, Nicholas, Patel, Chirag, Malone, Stephen, Ryan, Monique M., Calvert, Sophie, van Eyk, Clare L., Lardelli, Michael, Berkovic, Samuel F., Leventer, Richard J., Richards, Linda J., Scheffer, Ingrid E., Gecz, Jozef, Corbett, Mark A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454071/
https://www.ncbi.nlm.nih.gov/pubmed/37628618
http://dx.doi.org/10.3390/genes14081565

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