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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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Principais autores: Qian Wang, Cong Wang, Wen Bin Wei, Wei Ning Rong, Xiang Yu Shi
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2022-08-01
סדרה:BMC Medical Genomics
נושאים:
Glaucoma
Rubinstein–Taybi syndrome
CREBBP mutation
Phenotype
גישה מקוונת:https://doi.org/10.1186/s12920-022-01335-4
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