Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
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Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
Two adults with Rubinstein–Taybi syndrome with mild mental
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
Clinical exome sequencing identifies novel CREBBP variants in 18
Rubinstein–Taybi syndrome: clinical and molecular overview
Oliver BARTSCH, Medical Doctor, Professor
Insights into genotype–phenotype correlations from CREBBP point
PDF) Whole Exome Sequencing for a Patient with Rubinstein-Taybi
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations
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