Clinical and molecular findings of the six patients with Rubinstein

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

PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

Rubinstein-Taybi Syndrome - an overview

PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report

Genes involved in histone acetylation known to cause rare diseases

Rubinstein-Taybi Syndrome: A Rare Case Report

Microdeletions and mutations of CREBBP (CBP) gene can cause

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

IJMS, Free Full-Text

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of