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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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Autors principals: Jiaji Zhou, Tang Dan, Lan Zeng, Fu Xiong, Guanghuan Pi, Ai Chen, Haiting Liu, Shuyao Zhu
Format: Artigo
Idioma:Inglês
Publicat: BMC 2025-03-01
Col·lecció:BMC Pediatrics
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Accés en línia:https://doi.org/10.1186/s12887-025-05608-6
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