Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review

Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review

Abstract Background Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by severe global developmental delay (GDD) and distinctive facial grimacing. The loss of function of the CREBBP and EP300 genes is recognized as a genetic etiology of RSTS. However, the association between...

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Bibliographic Details
Main Authors: Jiaji Zhou, Tang Dan, Lan Zeng, Fu Xiong, Guanghuan Pi, Ai Chen, Haiting Liu, Shuyao Zhu
Format: Article
Language:English
Published: BMC 2025-03-01
Series:BMC Pediatrics
Subjects:
CREBBP
Rubinstein-Taybi syndrome
Ganglioneuroblastoma
Online Access:https://doi.org/10.1186/s12887-025-05608-6
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