Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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Last updated 29 agosto 2024
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Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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Hyperinsulinism in an individual with an EP300 variant of Rubinstein‐Taybi syndrome - Wild - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
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PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management
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Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
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PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
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Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
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New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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Clinical and Experimental Pediatrics
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
![Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine](https://onlinelibrary.wiley.com/cms/asset/8ef6774b-0058-4028-9b5a-391526910e17/mgg3972-fig-0001-m.jpg)
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
![Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine](https://d3i71xaburhd42.cloudfront.net/0f68bdd05689a22e1caac27eaf78f6c32eb7572e/2-Figure1-1.png)
PDF] Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
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Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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