Condition: Rubinstein-Taybi Syndrome


rs1555483834 in CREBBP gene and Rubinstein-Taybi Syndrome PMID 26788536 2016 CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

PMID 17052327 2006 Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

PMID 18792986 2008 Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

PMID 21932317 2011 Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.

PMID 15706485 2005 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

PMID 16359492 2005 Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.