Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
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Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

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

Localisation of nine CREBBP mutations (six of them of novel

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Rubinstein-Taybi Syndrome
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