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 manifes...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
BMC,
2022-08-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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