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  2. Kohlschutter-Tonz syndrome

Kohlschutter-Tonz syndrome

Definition:

Kohlschutter-Tonz syndrome (KTS) is an autosomal recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. It has been reported that KTS is caused by mutations in ROGDI, that plays an important role in neuronal development as well as amelogenesis.

Biomedical Dictionary

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