Browsing Fakülteler by Publisher "Asean Neurological Assoc"
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A rare neurodegenerative disorder with a novel mutation in ROGDI and Rett- like phenotype: Kohlschutter- Tönz syndrome
(Asean Neurological Assoc, 2020)Kohlschutter-Tonz syndrome (KTZS) is a rare neurodegenerative disorder that presents with seizures, developmental delay, psychomotor regression, hypoplastic dental enamel morphology characteristic for amelogenesis imperfecta, ...
