Article
A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome.
Oral surgery, oral medicine, oral pathology and oral radiology - 1 Jan 2018
Aswath Nalini, Ramakrishnan Sankar Narayanan, Teresa Nithya, Ramanathan Arvind
Abstract excerpt
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 of the ROGDI gene in KTS patients of European or Jewish decent. In the present study, we have...
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