Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?

Aicardi syndrome (AIS), a rare neurodevelopmental disorder thought to be caused by an X-linked dominant mutation, is characterized by 3 main features: agenesis of corpus callosum, infantile spams and chorioretinal lacunae. A genome-wide study of a girl with AIS lead us to identify a 6q deletion;12q...

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Detalhes bibliográficos
Main Authors: Prontera, P., Bartocci, A., Ottaviani, V., Isidori, I., Rogaia, D., Ardisia, C., Guercini, G., Mencarelli, A., Donti, E.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2013
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3666458/
https://ncbi.nlm.nih.gov/pubmed/23801936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000350040
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