Aicardi Syndrome Is a Genetically Heterogeneous Disorder

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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Main Authors: Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Genes
Subjects:
X-linked
sex bias
DNA sequencing
developmental epileptic encephalopathy
wnt signalling
DNA repair
Online Access:https://www.mdpi.com/2073-4425/14/8/1565

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