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Kohlschutter Tonz syndrome

Kohlschutter's syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Kohlschutter Tonz syndrome" returned 0 free, full-text review articles. First 0 results:
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome.
Last Updated: Jun 12, 2012

Kohlschütter-Tönz syndrome is a rare genetic disorder with epilepsy, psychomotor regression, and a severe enamel defect with yellow or brownish discoloration of the teeth. The first affected family was described in 1974, and 25 patients in 11 families have been reported until now. ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Kohlschutter Tonz syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Kohlschutter Tonz syndrome" returned 6 free, full-text research articles. First few results:
A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome.
Last Updated: Jun 12, 2018

Kohlschutter-tonz syndrome (KTS) is a rare neurodegenerative disorder that presents with seizures, developmental regression, characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta and dysmorphologies. Genetic analysis has identified loss-of-function mutations ...

The Kohlschütter-Tönz syndrome associated gene Rogdi encodes a novel presynaptic protein.
Last Updated: Aug 20, 2019

Mutations in the human homolog of the Drosophila gene Rogdi cause Kohlschütter-Tönz syndrome. This disorder is characterised by amelogenesis imperfecta, as well as severe neurological symptoms including epilepsy and psychomotor delay. However, little is known about the protein encoded ...

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