Kohlschutter–Tonz syndrome: clinical and genetic insight on patients with ROGDI variant
Background: Kohlschutter–Tonz syndrome (KTS) is a rare genetically heterogeneous autosomal recessive syn drome initially described in 1974 and characterized by the triad of infantile-onset epilepsy, amelogenesis imperfecta, and developmental delay. KTS patients share a common genetic trait, namely a...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2024-02-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | https://www.jbcgenetics.com/?mno=192566 |
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