The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation
Abstract Germline mutations of NSD1 are associated with Sotos syndrome, characterized by distinctive facial features, overgrowth, and developmental delay. Approximately 3% of individuals with Sotos syndrome develop tumors. In this study, we describe an infant in pineoblastoma with facial anomalies,...
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| Autores principales: | , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMC
2024-03-01
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| Colección: | BMC Pediatrics |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1186/s12887-024-04636-y |
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