Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
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Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
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PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum
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Rubinstein-Taybi Syndrome: A case report
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Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
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Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
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Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
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Genes, Free Full-Text
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Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
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PDF) Rubinstein-Taybi syndrome medical guidelines
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Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
![Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in](https://www.mdpi.com/genes/genes-12-00968/article_deploy/html/images/genes-12-00968-g003.png)
Genes, Free Full-Text
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A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
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Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals
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