A novel mutation in the OAR domain of the ARX gene.
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ABSTRACT:
SUBMITTER: Tapie A
PROVIDER: S-EPMC5290510 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Publications
A novel mutation in the OAR domain of the ARX gene.
Tapie Alejandra A Pi-Denis Natalia N Souto Jorge J Vomero Alejandra A Peluffo Gabriel G Boidi María M Ciganda Martín M Curbelo Nicolás N Raggio Victor V Roche Leda L Pastro Lucía L
Clinical case reports 20170123 2
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 mutation. ...[more]
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