De novo truncating variants of TRIM8 and atypical neuro-renal syndrome: a case report and literature review
Abstract Background The TRIM8 gene encodes a protein that participates in various biological processes. TRIM8 variants can lead to early termination of protein translation, which can cause a rare disease called neuro-renal syndrome. This syndrome is characterized by epilepsy, psychomotor retardation...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-04-01
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| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13052-023-01453-4 |