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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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
BMC,
2024-03-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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