Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review
Abstract Background Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by severe global developmental delay (GDD) and distinctive facial grimacing. The loss of function of the CREBBP and EP300 genes is recognized as a genetic etiology of RSTS. However, the association between...
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| Autores principales: | , , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMC
2025-03-01
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| Colección: | BMC Pediatrics |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1186/s12887-025-05608-6 |
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