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The Kohlschütter-Tönz syndrome associated gene Rogdi encodes a novel presynaptic protein
Mutations in the human homolog of the Drosophila gene Rogdi cause Kohlschütter-Tönz syndrome. This disorder is characterised by amelogenesis imperfecta, as well as severe neurological symptoms including epilepsy and psychomotor delay. However, little is known about the protein encoded by Rogdi, and...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693994/ https://www.ncbi.nlm.nih.gov/pubmed/29150638 http://dx.doi.org/10.1038/s41598-017-16004-1 |