A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome
Abstract Background This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein–Taybi syndrome. Methods Case report of a 9-year-old boy. Results We described the patient’s clinical manifestations in detail, and found that in addition to the typical systemic manifestatio...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2022-08-01
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| Schriftenreihe: | BMC Medical Genomics |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1186/s12920-022-01335-4 |
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