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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Descrição
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Rubinstein–Taybi syndrome: clinical and molecular overview
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
Insights into genotype–phenotype correlations from CREBBP point
PDF) Clinical description and mutational profile of a Moroccan
Rubinstein-Taybi Syndrome
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome
PDF) Clinical exome sequencing identifies novel CREBBP variants in
High frequency of copy number imbalances in Rubinstein–Taybi
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por adulto (o preço varia de acordo com o tamanho do grupo)
