Genes involved in histone acetylation known to cause rare diseases

Forgotten Diseases Research Foundation

Facial features of Rubinstein-Taybi syndrome

Rubinstein–Taybi syndrome European Journal of Human Genetics

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

OMIM diseases as a function of associated HPO phenotypes. Data include

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

Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared

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

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP