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March 25, 2024

[Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome].

Shaohua Yang Hui Liu J Y Li Y Zhang Z Q Liu Leyi Wang X L Chen S F Shangguan

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Abstract

To investigate the phenotypes of Rubinstein-Taybi syndrome (RSTS) caused by variants in the CREBBP or EP300 gene, and the correlation between genotype and phenotype.

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Cite This Study

Yang et al. (2024) studied this question.

synapsesocial.com/papers/68e7275eb6db6435876a0d3e https://doi.org/10.3760/cma.j.cn112140-20230822-00122

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1[Prenatal diagnosis of a fetus with Rubinstein-Taybi syndrome].2024
2Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotypecase_series · 2022 · 6 citations
3Clinical and Genetic Management of a Patient with Rubinstein–Taybi Syndrome Type 1: A Case Report2025
4Skipping of Exon 20 in EP300 : A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical ManifestationsGenetic Association Study · 2024 · 4 citations
5Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndromeGenetic Association Study · 2018 · 77 citations