Microdeletions and mutations of CREBBP (CBP) gene can cause

Rubinstein-Taybi Syndrome 1

Congenital glaucoma as a presenting feature of Rubinstein-Taybi

IJMS, Free Full-Text

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

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

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

Rubinstein–Taybi syndrome in diverse populations - Tekendo

A novel CREBBP mutation and its phenotype in a case of Rubinstein

Rubinstein-Taybi syndrome: clinical features, genetic basis