A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome.
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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… read more here.
Keywords: rogdi; tonz syndrome; kohlschutter tonz; rogdi gene ... See more keywords