A novel mutation in the OAR domain of the ARX gene

Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X‐linked gene that has pleiotropic effects. Here, we report the case of a boy diagnosed with Ohtahara syndrome. We performed the molecular analysis of the gene and identified a new missense mutati...

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Detalles Bibliográficos
Autores principales: Tapie, Alejandra, Pi‐Denis, Natalia, Souto, Jorge, Vomero, Alejandra, Peluffo, Gabriel, Boidi, María, Ciganda, Martín, Curbelo, Nicolás, Raggio, Victor, Roche, Leda, Pastro, Lucía
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290510/
https://www.ncbi.nlm.nih.gov/pubmed/28174645
http://dx.doi.org/10.1002/ccr3.769

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290510/
https://www.ncbi.nlm.nih.gov/pubmed/28174645
http://dx.doi.org/10.1002/ccr3.769

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