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

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

PDF) Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome

The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library

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PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients

Genes, Free Full-Text

PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients

PDF) Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations

PDF) The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature