Atypical focal cortical dysplasia in a patient with Cowden syndrome.
نویسندگان
چکیده
A macrocephalic girl presented with generalised epilepsy due to focal cortical dysplasia. She later developed multiple hamartomatous lesions and was diagnosed to have Cowden syndrome. The diagnosis was confirmed by identification of a novel frameshift mutation in the PTEN gene of the patient.
منابع مشابه
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ورودعنوان ژورنال:
- Hong Kong medical journal = Xianggang yi xue za zhi
دوره 20 2 شماره
صفحات -
تاریخ انتشار 2014