A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.
نویسندگان
چکیده
A family is described with six members affected by a syndrome of epilepsy, dementia, and amelogenesis imperfecta (Kohlschütter's syndrome). An autosomal recessive pattern of inheritance is established for this disorder.
منابع مشابه
Mutation Screening of ENAM, KLK4, MMP20 and FAM83H Genes among the Members of Five Iranian Families Affected with Autosomal Recessive Hypoplastic Amelogenesis Imperfecta
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 25 12 شماره
صفحات -
تاریخ انتشار 1988