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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.

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.[1]

References

  1. A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features. Christodoulou, J., Hall, R.K., Menahem, S., Hopkins, I.J., Rogers, J.G. J. Med. Genet. (1988) [Pubmed]
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