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A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the ROGDI gene. This syndrome is characterized by epilepsy, psychomotor regression and amelogenesis imperfecta. In this paper, we report a case of a 13-year-old Malian girl presenting with this rare disease....
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| Publicat a: | Mol Syndromol |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
S. Karger AG
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4281576/ https://ncbi.nlm.nih.gov/pubmed/25565929 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000366252 |
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