Rubinstein-Taybi syndrome - wikidoc

Congenital glaucoma as a presenting feature of Rubinstein-Taybi

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Clinical and molecular findings of the six patients with Rubinstein

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

Genes involved in histone acetylation known to cause rare diseases

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF

Mosaic CREBBP mutation causes overlapping clinical features of

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics