Article

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report

2025-06-25

Abstract excerpt

Rubinstein-Taybi Syndrome type 1 (RSTS1) is an ultrarare autosomal dominant genetic disorder associated with neurodevelopmental impairments and multiple congenital anomalies, with an incidence of 1:100,000–125,000 live births. The syndrome, caused by de novo mutations in the CREBBP gene, is characterized by phenotypic variability, including intellectual disability, facial dysmorphisms, and systemic abnormalities....

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Literature Corpus work: 6a41b45c-455a-5741-a5c3-a7462f38cd78
DOI: 10.20944/preprints202506.2043.v1

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