Article

Clinical Phenotype and Genetic Characteristics of 5 Cases with Rubinstein‑Taybi Syndrome

2026-07-27

Abstract excerpt

<title>Abstract</title> <p> <bold>Objective</bold> To summarize the clinical phenotype, genetic features, and key points of diagnosis and treatment of Rubinstein-Taybi syndrome (RSTS), so as to improve the level of early recognition and precise diagnosis of this disease. <bold>Methods</bold> The clinical data, imaging findings, echocardiographic results, genetic testing results, and intellectual development a...

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Literature Corpus work: 95b2b903-d956-5f27-8f02-0adc05608914
DOI: 10.21203/rs.3.rs-10036603/v1

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