Report of one case with de novo mutation in TLK2 and literature review
Abstract TLK2 variants were identified as the cause for several neurodevelopmental disorders by impacting brain development. The incidence of mutation in TLK2 is low, which has common clinical features with other rare diseases. Herein, we reported a 5-year-old boy with TLK2 heterozygous mutation who...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2024-11-01
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| coleção: | BMC Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s12887-024-05205-z |
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