A novel mutation in the OAR domain of the ARX gene
نویسندگان
چکیده
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.
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عنوان ژورنال:
دوره 5 شماره
صفحات -
تاریخ انتشار 2017