PDF) Rubinstein-Taybi syndrome medical guidelines

Forgotten Diseases Research Foundation

IJMS, Free Full-Text

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

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

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Rubinstein-Taybi Syndrome

PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

Genes involved in histone acetylation known to cause rare diseases

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: clinical and molecular overview, Expert Reviews in Molecular Medicine