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Research Article
A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.
  1. J Christodoulou,
  2. R K Hall,
  3. S Menahem,
  4. I J Hopkins,
  5. J G Rogers
  1. Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.

    Abstract

    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.

    https://doi.org/10.1136/jmg.25.12.827

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