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: Qian Wang (Author), Cong Wang (Author), Wen Bin Wei (Author), Wei Ning Rong (Author), Xiang Yu Shi (Author)
Format: Book
Published: BMC, 2022-08-01T00:00:00Z.
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3rd Floor Main Library

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