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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Internet
Connect to this object online.3rd Floor Main Library
Call Number: |
A1234.567 |
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Copy 1 | Available |