Condition: RUBINSTEIN-TAYBI SYNDROME 2


rs1114167305 in EP300 gene and RUBINSTEIN-TAYBI SYNDROME 2 PMID 25741868 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

PMID 26486927 2016 From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

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

PMID 27648933 2016 Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

PMID 24352918 2014 Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.

rs1555912040 in EP300-AS1;EP300 gene and RUBINSTEIN-TAYBI SYNDROME 2 PMID 25741868 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

rs1057519375 in EP300;EP300-AS1 gene and RUBINSTEIN-TAYBI SYNDROME 2 PMID 25741868 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

PMID 25712426 2015 Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.