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Published in 2018 at "Oral surgery, oral medicine, oral pathology and oral radiology"
DOI: 10.1016/j.oooo.2017.09.016
Abstract: OBJECTIVE 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 within the coding region…
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Keywords:
rogdi;
tonz syndrome;
kohlschutter tonz;
rogdi gene ... See more keywords
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Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-11941-3
Abstract: Kohlschutter-Tönz syndrome (KTS) is a rare genetic disorder with neurological dysfunctions including seizure and intellectual impairment. Mutations at the Rogdi locus have been linked to development of KTS, yet the underlying mechanisms remain elusive. Here…
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Keywords:
drosophila;
rogdi;
wake promoting;
promoting dopaminergic ... See more keywords