Novel EP300 and NSD1 variants in Chinese pediatric patients with Rubinstein-Taybi syndrome: evidence for oligogenic inheritance and phenotypic expansion

Abstract Background Rubinstein–Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental disorder caused by heterozygous loss-of-function variants in CREBBP or EP300. EP300-related cases often show milder clinical features, but their full phenotypic spectrum and the potential role of oligoge...

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Hauptverfasser:	Xu Ningan, Wang Yefeng, Wu Xinghan, Zhao Sha
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2025-10-01
Schriftenreihe:	BMC Medical Genomics
Schlagworte:	Rubinstein-Taybi Syndrome (RSTS) EP300 NSD1 Oligogenic inheritance Genotype-phenotype correlation Whole exome sequencing (WES)
Online-Zugang:	https://doi.org/10.1186/s12920-025-02220-6
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